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  2. Microcephaly
  3. FRMD4A
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Microcephaly

Gene: FRMD4A

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single Bedouin Israeli family reported with homozygous variant initially. Good segregation data. No functional data. Another family reported as part of a large consanguineous microcephaly cohort, different variant.
Sources: Expert Review
Created: 2 Apr 2020, 12:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; microcephaly; Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819

Publications

Created: 2 Apr 2020, 12:03 a.m.

Panel version: 0.103

Details

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

History Filter Activity

2 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: frmd4a has been classified as Amber List (Moderate Evidence).

2 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: frmd4a has been classified as Amber List (Moderate Evidence).

2 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FRMD4A was added gene: FRMD4A was added to Microcephaly. Sources: Expert Review Mode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRMD4A were set to 25388005; 30214071 Phenotypes for gene: FRMD4A were set to Intellectual disability; microcephaly; Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819 Review for gene: FRMD4A was set to AMBER