DDG2P
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 DDG2P confidence category, allelic requirement and molecular mechanism for FAM177A1-related neurodevelopmental disorder with macrocephaly are moderate, biallelic_autosomal and loss of function (PMIDs: 25558065, 38767059). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03707.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0100038; FAM177A1-related neurodevelopmental disorder with macrocephaly

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

FAM177A1-related neurodevelopmental disorder with macrocephaly
MONDO:0100038

Clinvar variants

Variants in FAM177A1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FAM177A1 was added gene: FAM177A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAM177A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM177A1 were set to 38767059; 25558065 Phenotypes for gene: FAM177A1 were set to FAM177A1-related neurodevelopmental disorder with macrocephaly; MONDO:0100038

DDG2P Gene: FAM177A1