Intellectual disability
Gene: FAM177A1

FAM177A1 (family with sequence similarity 177 member A1)
EnsemblGeneIds (GRCh38): ENSG00000151327
EnsemblGeneIds (GRCh37): ENSG00000151327
FAM177A1 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 2:57 p.m. | Last Modified: 26 Sep 2024, 2:57 p.m.

Panel Version: 7.41

Comment on list classification: There is sufficient evidence available (four unrelated cases) for the promotion of this gene to green rating in the next GMS update.
Created: 18 Jun 2024, 4:26 p.m. | Last Modified: 18 Jun 2024, 4:26 p.m.

Panel Version: 6.26

PMID:25558065 reported a study of 143 multiplex consanguineous families, on which a homozygous frameshift variant in FAM177A1 gene was identified in a family with four affected siblings with intellectual disability, dolicocephaly, obesity, and macrocephaly. The variant segregated with all 4 affected siblings and parents were confirmed heterozygous carriers.

PMID:38767059 reported five individuals from three unrelated families with biallelic loss of function variants in FAM177A1 gene. They presented with clinical manifestations including global developmental delay, intellectual disability, seizures, behavioural abnormalities, hypotonia, gait disturbance, and macrocephaly.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Created: 18 Jun 2024, 4:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Publications

Created: 18 Jun 2024, 4:21 p.m.

Panel version: 7.41

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Literature

Phenotypes

neurodevelopmental disorder, MONDO:0700092
intellectual disability, MONDO:0001071

Tags

gene-checked

Clinvar variants

Variants in FAM177A1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: FAM177A1.

26 Sep 2024, Gel status: 3