1. Panels
  2. Hereditary ataxia with onset in adulthood
  3. FRMD4A
Genes in panel
Prev Next

Hereditary ataxia with onset in adulthood

Gene: FRMD4A

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

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels -Hereditary ataxia v1.148 - Brain channelopathy v1.46. This gene was RED and external expert review from Wessex and West Midlands GLH for GMS Neurology specialist test group for R54 agrees this gene should remain RED
Created: 19 Jun 2019, 4:59 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.
Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.171

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Single family reported with a singl variant, limited evidence provided for gene. Homozygous missense variant also reportde in a fetus with 'scan abnormalities', doesn't add sufficient evidence
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Agenesis of corpus callosum with facial anomalies and cerebellar ataxia

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Agenesis of corpus callosum with facial anomalies and cerebellar ataxia
OMIM
616305
Clinvar variants
Variants in FRMD4A
Penetrance
None
Panels with this gene

History Filter Activity

19 Jun 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: FRMD4A was changed from to BIALLELIC, autosomal or pseudoautosomal

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Agenesis of corpus callosum with facial anomalies and cerebellar ataxia for gene: FRMD4A

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to FRMD4A.

14 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: FRMD4A was added gene: FRMD4A was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: FRMD4A was set to