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Fetal anomalies v1.350 CEP76 Zornitza Stark gene: CEP76 was added
gene: CEP76 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CEP76 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP76 were set to complex neurodevelopmental disorder MONDO:0100038
Review for gene: CEP76 was set to GREEN
Added comment: Erica Davis, Stanley Manne Children’s research institute, Chicago
ESHG presentation 4/6/24, unpublished

CEP76 associated with syndromic ciliopathy

CEP76 localizes to centrioles and basal body primary cilia
Role in normal centriolar duplication

Index case
Bardet Biedl syndrome
Compound heterozygous pLoF variants in CEP76

Via Gene matcher
7 cases in 7 families- biallelic CEP76 and various clinical features within ciliopathy spectrum:
Obesity
Ocular phenotype
Structural brain anomalies
Renal?

3/7 families clinical Dx Joubert syndrome
1/7 BBS
1/7 GDD/ID NOS
2/7 retinitis pigmentosa (1 of these with learning difficulties)

Mixture of biallelic pLOF and missense variant

CEP76 knockout zebrafish model shows retinal phenotype w photoreceptor loss, similar to homozygous known BBS4 pathogenic variant

Cell based fx studies with missense variants above, consistent with centriolar duplication dysfunction
Sources: Literature
Fetal anomalies v0.289 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Fetal anomalies v0.289 BBS4 Zornitza Stark Gene: bbs4 has been classified as Green List (High Evidence).
Fetal anomalies v0.289 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from BARDET-BIEDL SYNDROME TYPE 4 to Bardet-Biedl syndrome 4, MIM#615982; MONDO:0014433
Fetal anomalies v0.288 BBS4 Zornitza Stark Publications for gene: BBS4 were set to 28425981
Fetal anomalies v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS4 were set to 28425981
Phenotypes for gene: BBS4 were set to BARDET-BIEDL SYNDROME TYPE 4