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  2. Ataxia - paediatric
  3. FRMD5
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Ataxia - paediatric

Gene: FRMD5

Green List (high evidence)
FRMD5 (FERM domain containing 5)
EnsemblGeneIds (GRCh38): ENSG00000171877
EnsemblGeneIds (GRCh37): ENSG00000171877
OMIM: 616309, Gene2Phenotype
FRMD5 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Eight individuals reported with missense variants in this gene, de novo in 6 where parents were available. Clinical presentation was with ID, seizures, ataxia. Fly model.
Sources: Literature
Created: 11 Oct 2022, 3:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094

Publications

Created: 11 Oct 2022, 3:10 a.m.

Panel version: 1.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
OMIM
616309
Clinvar variants
Variants in FRMD5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FRMD5 were changed from Neurodevelopmental disorder MONDO:0700092, FRMD5-related to Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094

11 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: frmd5 has been classified as Green List (High Evidence).

11 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: frmd5 has been classified as Green List (High Evidence).

11 Oct 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FRMD5 was added gene: FRMD5 was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FRMD5 were set to 36206744 Phenotypes for gene: FRMD5 were set to Neurodevelopmental disorder MONDO:0700092, FRMD5-related Review for gene: FRMD5 was set to GREEN