Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: FRMD4A

Red List (low evidence)

FRMD4A (FERM domain containing 4A)
EnsemblGeneIds (GRCh38): ENSG00000151474
EnsemblGeneIds (GRCh37): ENSG00000151474
OMIM: 616305, Gene2Phenotype
FRMD4A is in 5 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819
OMIM
616305
Clinvar variants
Variants in FRMD4A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: FRMD4A was added gene: FRMD4A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRMD4A were set to 25388005 Phenotypes for gene: FRMD4A were set to Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819