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Recognized gene
PAH
Normalized c.HGVS
c.1003A>G, c.1010G>T, c.1030G>C, c.1031G>T, c.1066-3C>G and 44 more
Normalized p.HGVS
p.(=), p.(Ala165Pro), p.(Ala246Asp), p.(Arg157Thr), p.(Arg158Pro) and 38 more
Matching records
414
PM3-positive records
69
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| PAH |
NM_000277.3:c.158G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.728G > A
context: Confirmed in trans
|
36333673
Mild hyperphenylalaninemia (hpa) presenting as orthostatic tremor: a case report.
BMC neurology, 2022
|
Main article | |
| PAH |
NM_000277.3:c.158G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.728G>A; p.R243Q
context: Compound heterozygous candidate
|
41413260
Newborn screening for inherited metabolic disorders in central China: a retrospective study of 153,956 infants using non-derivatized tandem mass spectrometry.
Scientific reports, 2025
|
Main article | |
| PAH |
NM_000277.3:c.158G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.721C>T; c.728G>A; p.Arg241Cys; +1 more
context: Compound heterozygous candidate
|
41357791
Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.
Frontiers in pediatrics, 2025
|
Main article | |
| PAH |
NM_000277.3:c.158G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.60+4A>G; p.?; splicing
context: Confirmed in trans
|
41291872
The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China.
Orphanet journal of rare diseases, 2025
|
Main article | |
| PAH |
NM_000277.3:c.158G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.631C>A; p.Pro211Thr
context: Compound heterozygous candidate
|
40293582
Genotypic and phenotypic characteristics of Turkish patients with phenylalanine metabolism disorders.
Metabolic brain disease, 2025
|
Main article | |
| PAH |
NM_000277.3:c.168+5G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
39940237
Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up.
Nutrients, 2025
|
Main article | |
| PAH |
NM_000277.3:c.781C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
39940237
Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up.
Nutrients, 2025
|
Main article | |
| PAH |
NM_000277.3:c.158G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.688G>A
context: Compound heterozygous candidate
|
39969324
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Medicine, 2024
|
Main article | |
| PAH |
NM_000277.3:c.158G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.547G>T; c.611A>G; c.728G>A; +5 more
context: Compound heterozygous candidate
|
39776477
Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening.
Frontiers in public health, 2024
|
Supplementary material | |
| PAH |
NM_000277.3:c.158G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1238G>C; c.526C>T; c.688G>A; +13 more
context: Compound heterozygous candidate
|
39670100
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.
PeerJ, 2024
|
Supplementary material | |
| PAH |
NM_000277.3:c.158G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1315+6T>A
context: Compound heterozygous candidate
|
38577637
The significance of machine learning in neonatal screening for inherited metabolic diseases.
Frontiers in pediatrics, 2024
|
Main article | |
| PAH |
NM_000277.3:c.689T>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Confirmed in trans with c.688G> A; p.V230I
context: Confirmed in trans
|
38481932
Identified PAH V230A and PAH V230I mutations in a family with diverse clinical presentations.
Clinical case reports, 2024
|
Main article | |
| PAH |
NM_000277.3:c.158G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
38105703
Analysis of gene variation and long-term follow-up in children with phenylalanine hydroxylase deficiency diagnosed by newborn screening.
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences, 2023
|
Main article | |
| PAH |
NM_000277.3:c.158G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1199+502A>T
context: Compound heterozygous candidate
|
37237386
Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.
Orphanet journal of rare diseases, 2023
|
Main article | |
| PAH |
NM_000277.3:c.158G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
37098607
The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.
Human genomics, 2023
|
Main article | |
| PAH |
NM_000277.3:c.158G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
37004080
Allelic phenotype prediction of phenylketonuria based on the machine learning method.
Human genomics, 2023
|
Main article | |
| PAH |
NM_000277.3:c.158G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
36927542
A retrospective analysis of MS/MS screening for IEM in high-risk areas.
BMC medical genomics, 2023
|
Main article | |
| PAH |
NM_000277.3:c.473G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.1243G>A; c.827T>C
context: Compound heterozygous candidate
|
36768810
Comparison of Tandem Mass Spectrometry and the Fluorometric Method-Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phenylketonuria.
International journal of molecular sciences, 2023
|
Main article | |
| PAH |
NM_000277.3:c.158G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
36246604
Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population.
Frontiers in genetics, 2022
|
Main article | |
| PAH |
NM_000277.3:c.158G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1073 T > G; c.1138del; c.1162G > A; +21 more
context: Compound heterozygous candidate
|
36104584
Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.
Molecular biology reports, 2022
|
Main article | |