Cerebellar hypoplasia
Gene: FRMD4A

FRMD4A (FERM domain containing 4A)
EnsemblGeneIds (GRCh38): ENSG00000151474
EnsemblGeneIds (GRCh37): ENSG00000151474
OMIM: 616305, Gene2Phenotype
FRMD4A is in 4 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Mutations only identified in one family. Variable degrees of cerebellar hypoplasia seen
Created: 14 Nov 2016, 3:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819

Publications

25388005

Created: 14 Nov 2016, 3:22 p.m.

Panel version: 0.79

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

Phenotypes

Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819

OMIM

616305

Clinvar variants

Variants in FRMD4A

Penetrance

Complete

Publications

25388005

Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 0

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

14 Nov 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

FRMD4A was added to Cerebellar hypoplasiapanel. Sources: Literature