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  2. Ataxia and cerebellar anomalies - narrow panel
  3. FRMD5
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Ataxia and cerebellar anomalies - narrow panel

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

2 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 11 Oct 2023, 10:01 a.m. | Last Modified: 11 Oct 2023, 10:01 a.m.
Panel Version: 4.37

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 11 Oct 2023, 10:01 a.m.
Last Modified: 11 Oct 2023, 10:01 a.m.
Panel version: 4.37

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - at least 7 unrelated cases with ataxia plus supportive fly model.
Created: 15 Dec 2022, 11:41 a.m. | Last Modified: 15 Dec 2022, 11:41 a.m.
Panel Version: 3.18
Lu et al. 2022 (PMID: 36206744) report 8 unrelated individuals with de novo missense FRMD5 variants who presented with developmental delay (8/8), intellectual disability (7/7), ataxia (7/8), seizures (5/8), and abnormalities of eye movement (8/8). LOF mutant flies exhibited motor impairment, defective responses to light and heat-induced seizures. Fly phenotypes were rescued by expression of the wildtype gene but not by two of the patient missense mutants.

FRMD5 is associated with a relevant phenotype in OMIM (MIM# 620094) but is not yet listed in G2P.
Sources: Literature
Created: 15 Dec 2022, 11:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurodevelopmental disorder with eye movement abnormalities and ataxia, OMIM:620094

Publications

Created: 15 Dec 2022, 11:40 a.m.

Panel version: 3.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with eye movement abnormalities and ataxia, OMIM:620094
OMIM
616309
Clinvar variants
Variants in FRMD5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_22_promote_green was removed from gene: FRMD5.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to FRMD5. Source NHS GMS was added to FRMD5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

15 Dec 2022, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: frmd5 has been classified as Amber List (Moderate Evidence).

15 Dec 2022, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: FRMD5 was added gene: FRMD5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Q4_22_promote_green tags were added to gene: FRMD5. Mode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FRMD5 were set to 36206744 Phenotypes for gene: FRMD5 were set to Neurodevelopmental disorder with eye movement abnormalities and ataxia, OMIM:620094 Review for gene: FRMD5 was set to GREEN