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Intellectual disability

Gene: FEM1C

Amber List (moderate evidence)
FEM1C (fem-1 homolog C)
EnsemblGeneIds (GRCh38): ENSG00000145780
EnsemblGeneIds (GRCh37): ENSG00000145780
OMIM: 608767, Gene2Phenotype
FEM1C is in 3 panels

2 reviews

Julie Evans (South West Genomic Laboratory Hub)

I don't know

Please note that the 'two' patients with the heterozygous de novo missense variant c.377A>T p.(Asp126Val) in the FEM1C gene are actually the same South West patient who was recruited to the DDD study (PMID 28135719) and 100,000 genomes project.
Created: 19 Feb 2025, 2:34 p.m. | Last Modified: 19 Feb 2025, 2:41 p.m.
Panel Version: 8.89
Created: 19 Feb 2025, 2:34 p.m.
Last Modified: 19 Feb 2025, 2:41 p.m.
Panel version: 8.89

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: This gene should be rated AMBER as there are two unrelated cases of intellectual disability (one in literature and another from Diagnostic Discovery initiative).
Created: 31 May 2023, 1:58 p.m. | Last Modified: 31 May 2023, 2:04 p.m.
Panel Version: 5.162
PMID:36336956 reported a 9 year-old boy with severe global developmental delay, lack of speech, pyramidal signs and limb ataxia and identified with a heterozygous de novo missense variant c.376G>C (p.Asp126His) in the FEM1C gene. Cognitive assessment performed at 9 years of age showed that he has moderate intellectual disability.

De novo variant in the same residue (p.Asp126Val) has also been associated with an uncharacterised developmental disorder in PMID:28135719.

An additional case with a diagnostically reported de novo variant in this gene and a compatible phenotype including intellectual disability and ataxia was identified in the internal Genomics England Clinical Variant Archive (CVA) by the Diagnostic Discovery initiative.

This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype.
Sources: Literature
Created: 23 Mar 2023, 4:49 p.m. | Last Modified: 31 May 2023, 1:56 p.m.
Panel Version: 5.161

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability, MONDO:0001071

Publications

Created: 23 Mar 2023, 4:49 p.m.
Last Modified: 31 May 2023, 2:04 p.m.
Panel version: 5.161

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability, MONDO:0001071
OMIM
608767
Clinvar variants
Variants in FEM1C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 May 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: fem1c has been classified as Amber List (Moderate Evidence).

23 Mar 2023, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: FEM1C were set to 36336956

23 Mar 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FEM1C was added gene: FEM1C was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: FEM1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FEM1C were set to 36336956 Phenotypes for gene: FEM1C were set to Intellectual disability, MONDO:0001071 Review for gene: FEM1C was set to RED