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  3. EFCAB7
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Polydactyly

Gene: EFCAB7

Amber List (moderate evidence)
EFCAB7 (EF-hand calcium binding domain 7)
EnsemblGeneIds (GRCh38): ENSG00000203965
EnsemblGeneIds (GRCh37): ENSG00000203965
OMIM: 617632, Gene2Phenotype
EFCAB7 is in 2 panels

1 review

Melanie Marty (Victorian Clinical Genetics Services)

I don't know

PMID: 37684519: two homozygous frameshift variants were identified by exome sequencing in four consanguinous Pakistani families, 3 families with p.(Gly277Valfs*5) and 1 family with p.(Asn451Phefs*2). Variants segregated with disease and het carriers were unaffected. Counting as 2 families to be conservative.
Sources: Literature
Created: 5 Oct 2023, 1:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polydactyly (MONDO:0021003), EFCAB7-related

Publications

Created: 5 Oct 2023, 1:36 a.m.

Panel version: 0.266

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Polydactyly (MONDO:0021003), EFCAB7-related
OMIM
617632
Clinvar variants
Variants in EFCAB7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: efcab7 has been classified as Amber List (Moderate Evidence).

5 Oct 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: efcab7 has been classified as Amber List (Moderate Evidence).

5 Oct 2023, Gel status: 0

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

Melanie Marty (Victorian Clinical Genetics Services)

gene: EFCAB7 was added gene: EFCAB7 was added to Polydactyly. Sources: Literature Mode of inheritance for gene: EFCAB7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFCAB7 were set to PMID: 37684519 Phenotypes for gene: EFCAB7 were set to Polydactyly (MONDO:0021003), EFCAB7-related Review for gene: EFCAB7 was set to AMBER