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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
  3. CELSR3
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Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

Gene: CELSR3

Green List (high evidence)
CELSR3 (cadherin EGF LAG seven-pass G-type receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000008300
EnsemblGeneIds (GRCh37): ENSG00000008300
OMIM: 604264, Gene2Phenotype
CELSR3 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 38429302:12 affected individuals from 11 families reported with bi-allelic variants. Phenotype ranged from CNS anomalies (7/12), CNS and CAKUT (3/12) and CAKUT only (2/12). 8/12 has ID/DD. Only missense variants reported and 1 inframe variant. Functional studies done in zebrafish demonstrate similar structural anomalies of the developing pronephros and neuronal abnormalities to affected individuals.
Sources: Literature
Created: 8 Mar 2024, 3:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder (MONDO#0700092), CELSR3-related

Publications

Created: 8 Mar 2024, 3:10 a.m.

Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), CELSR3-related
OMIM
604264
Clinvar variants
Variants in CELSR3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: celsr3 has been classified as Green List (High Evidence).

8 Mar 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: celsr3 has been classified as Green List (High Evidence).

8 Mar 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: CELSR3 was added gene: CELSR3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature Mode of inheritance for gene: CELSR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CELSR3 were set to 38429302 Phenotypes for gene: CELSR3 were set to Neurodevelopmental disorder (MONDO#0700092), CELSR3-related Review for gene: CELSR3 was set to GREEN