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| Ataxia and cerebellar anomalies - narrow panel v4.38 | FEM1C | Eleanor Williams Tag gene-checked tag was added to gene: FEM1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.38 | FEM1C | Eleanor Williams commented on 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.37 | FEM1C | Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: FEM1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.37 | FEM1C | Eleanor Williams reviewed gene: FEM1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.35 | FEM1C |
Achchuthan Shanmugasundram 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) |
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| Ataxia and cerebellar anomalies - narrow panel v4.13 | FEM1C | Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: FEM1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.13 | FEM1C | Achchuthan Shanmugasundram Classified gene: FEM1C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.13 | FEM1C | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.13 | FEM1C | Achchuthan Shanmugasundram Gene: fem1c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.12 | FEM1C |
Achchuthan Shanmugasundram commented on gene: FEM1C: 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. |
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| Ataxia and cerebellar anomalies - narrow panel v4.12 | FEM1C |
Achchuthan Shanmugasundram 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 Added comment: Sources: Literature |
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