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  3. CEP76
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Fetal anomalies

Gene: CEP76

Green List (high evidence)
CEP76 (centrosomal protein 76)
EnsemblGeneIds (GRCh38): ENSG00000101624
EnsemblGeneIds (GRCh37): ENSG00000101624
CEP76 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Not reviewed in UK panel app, gree Aus panel app but based on abstract at ESHG. Just published 41105778: 8 families biallelic variants LOF & missense, functional data for missense and also zebrafish. Ciliopathy BBS & Joubert phenotypes but some just reinitis pigmentosa 5/8 had neuroanatomical findings including molar tooth sign, cerebellar vermis hypoplasia, and abnormal brain stem. Green
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
retinitis pigmentosa; Joubert syndrome; complex neurodevelopmental disorder MONDO:0100038; Bardet-Biedl syndrome

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Bardet-Biedl syndrome
  • retinitis pigmentosa
  • complex neurodevelopmental disorder MONDO:0100038
Tags
gene-checked
Clinvar variants
Variants in CEP76
Penetrance
None
Panels with this gene

History Filter Activity

19 Mar 2026, Gel status: 3

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag gene-checked tag was added to gene: CEP76.

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Joubert syndrome; Bardet-Biedl syndrome; retinitis pigmentosa; complex neurodevelopmental disorder MONDO:0100038 for gene: CEP76

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: CEP76 was added gene: CEP76 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: CEP76 was set to BIALLELIC, autosomal or pseudoautosomal