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Severe microcephaly

Gene: C7orf43

No list

C7orf43 (chromosome 7 open reading frame 43)
EnsemblGeneIds (GRCh38): ENSG00000146826
EnsemblGeneIds (GRCh37): ENSG00000146826
C7orf43 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

I don't know

Single family reported: three affected siblings with homozygous truncating variant. Supportive zebrafish model. HGNC approved name: MAP11.
Sources: Literature
Created: 1 May 2020, 10:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 25, primary, autosomal recessive, MIM# 618351

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Microcephaly 25, primary, autosomal recessive, MIM# 618351
Clinvar variants
Variants in C7orf43
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 May 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: C7orf43 was added gene: C7orf43 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: C7orf43 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C7orf43 were set to 30715179 Phenotypes for gene: C7orf43 were set to Microcephaly 25, primary, autosomal recessive, MIM# 618351 Review for gene: C7orf43 was set to AMBER