Cholestasis
Gene: SEMA7AEnsemblGeneIds (GRCh38): ENSG00000138623
EnsemblGeneIds (GRCh37): ENSG00000138623
OMIM: 607961, Gene2Phenotype
SEMA7A is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Homozygous mice recapitulated the patient phenotype.
Sources: Expert listCreated: 12 May 2022, 11:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874
- OMIM
- 607961
- Clinvar variants
- Variants in SEMA7A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sema7a has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sema7a has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SEMA7A was added gene: SEMA7A was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: SEMA7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEMA7A were set to 34585848 Phenotypes for gene: SEMA7A were set to Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874 Review for gene: SEMA7A was set to AMBER