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  2. Polymicrogyria and Schizencephaly
  3. CEP83
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Polymicrogyria and Schizencephaly

Gene: CEP83

Red List (low evidence)
CEP83 (centrosomal protein 83)
EnsemblGeneIds (GRCh38): ENSG00000173588
EnsemblGeneIds (GRCh37): ENSG00000173588
OMIM: 615847, Gene2Phenotype
CEP83 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported with nephronophthisis and PMG and ID. Compound het variants in CEP83.
Sources: Literature
Created: 4 Sep 2024, 6:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis 18, MIM# 615862

Publications

Created: 4 Sep 2024, 6:33 a.m.

Panel version: 0.192

History Filter Activity

4 Sep 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cep83 has been classified as Red List (Low Evidence).

4 Sep 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CEP83 was added gene: CEP83 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP83 were set to 39219159 Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862 Review for gene: CEP83 was set to RED