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Fetal anomalies

Gene: C2orf69

Green List (high evidence)

C2orf69 (chromosome 2 open reading frame 69)
EnsemblGeneIds (GRCh38): ENSG00000178074
EnsemblGeneIds (GRCh37): ENSG00000178074
C2orf69 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423

Chloe Stutterd (Victorian Clinical Genetics Services)

Green List (high evidence)

Antenatal features: microcephaly, thin CC, Dandy-Walker malformation
Sources: Literature
Created: 27 Feb 2022, 11:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423
Clinvar variants
Variants in C2orf69
Penetrance
None
Panels with this gene

History Filter Activity

28 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c2orf69 has been classified as Green List (High Evidence).

28 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: C2orf69 were changed from to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423

28 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c2orf69 has been classified as Green List (High Evidence).

27 Feb 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance

Chloe Stutterd (Victorian Clinical Genetics Services)

gene: C2orf69 was added gene: C2orf69 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: C2orf69 was set to GREEN