DDG2P
Gene: TRIM71

TRIM71 (tripartite motif containing 71)
EnsemblGeneIds (GRCh38): ENSG00000206557
EnsemblGeneIds (GRCh37): ENSG00000206557
TRIM71 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 TRIM71-related neurodevelopmental disorder with ventriculomegaly and hydrocephalus are moderate, monoallelic_autosomal and loss of function (PMID:38833623). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03899.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
OMIM:618667.0; TRIM71-related neurodevelopmental disorder with ventriculomegaly and hydrocephalus; MONDO:0032862

Publications

38833623

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

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

TRIM71-related neurodevelopmental disorder with ventriculomegaly and hydrocephalus
MONDO:0032862
OMIM:618667.0

Clinvar variants

Variants in TRIM71

Penetrance

None

Publications

38833623

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: TRIM71 was added gene: TRIM71 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRIM71 were set to 38833623 Phenotypes for gene: TRIM71 were set to TRIM71-related neurodevelopmental disorder with ventriculomegaly and hydrocephalus; MONDO:0032862; OMIM:618667.0

DDG2P Gene: TRIM71