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  3. C7orf43
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Microcephaly

Gene: C7orf43

Amber List (moderate evidence)
C7orf43 (chromosome 7 open reading frame 43)
EnsemblGeneIds (GRCh38): ENSG00000146826
EnsemblGeneIds (GRCh37): ENSG00000146826
C7orf43 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Comment when marking as ready: HGNC approved name TRAPPC14
Created: 2 Apr 2021, 6:38 a.m. | Last Modified: 2 Apr 2021, 6:38 a.m.
Panel Version: 0.635
Single family reported: three affected siblings with homozygous truncating variant. Supportive zebrafish model.
Sources: Literature
Created: 21 Apr 2020, 3:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 21 Apr 2020, 3:12 a.m.

Panel version: 0.117

Details

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

History Filter Activity

2 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c7orf43 has been classified as Amber List (Moderate Evidence).

2 Apr 2021, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag new gene name tag was added to gene: C7orf43.

21 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c7orf43 has been classified as Amber List (Moderate Evidence).

21 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c7orf43 has been classified as Amber List (Moderate Evidence).

21 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C7orf43 was added gene: C7orf43 was added to 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