Ataxia and cerebellar anomalies - narrow panel
Gene: FEM1C
This gene currently has no phenotype listed in OMIM so checked PMID:36336956 to make sure the same gene name is listed. It is so added the gene-checked tag.Created: 16 Oct 2023, 5:08 p.m. | Last Modified: 16 Oct 2023, 5:08 p.m.
Panel Version: 4.38
The rating of this gene has been updated to green and the mode of inheritance set to "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" 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, NOT imprinted
Comment on list classification: There are two unrelated cases (one in literature and another from Diagnostic Discovery initiative) and functional evidence from animal models in support of the association of this gene to ataxia. Hence, this gene can be rated Green at the next major update.Created: 31 May 2023, 2:22 p.m. | Last Modified: 31 May 2023, 2:22 p.m.
Panel Version: 4.13
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. The introduction of the equivalent variant in C. elegans resulted in disabled locomotion caused by synaptic abnormalities and not by muscle dysfunction.
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.Created: 31 May 2023, 2:19 p.m. | Last Modified: 31 May 2023, 2:19 p.m.
Panel Version: 4.12
Sources: LiteratureCreated: 31 May 2023, 2:15 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ataxia, HP:0001251
Publications
Tag gene-checked tag was added to gene: FEM1C.
Tag Q2_23_promote_green was removed from gene: FEM1C.
Source Expert Review Green was added to FEM1C. Source NHS GMS was added to FEM1C. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_23_promote_green tag was added to gene: FEM1C.
Gene: fem1c has been classified as Amber List (Moderate Evidence).
gene: FEM1C was added gene: FEM1C was added to Ataxia and cerebellar anomalies - narrow panel. 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 Ataxia, HP:0001251 Review for gene: FEM1C was set to GREEN