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DDG2P

Gene: FAH

Green List (high evidence)

FAH (fumarylacetoacetate hydrolase)
EnsemblGeneIds (GRCh38): ENSG00000103876
EnsemblGeneIds (GRCh37): ENSG00000103876
OMIM: 613871, Gene2Phenotype
FAH is in 14 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:29 a.m.

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: FAH was added gene: FAH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAH were set to 7977370; 11196105; 8829657; 7757089; 1401056; 8364576; 8162054; 8318997 Phenotypes for gene: FAH were set to TYROSINEMIA TYPE 1 276700