Skeletal dysplasia

Gene: CRELD1

I don't know

Three families reported with heterozygous missense variants and heterotaxy phenotype. However, supporting evidence of pathogenicity for some of the variants is relatively weak.

Created: 19 Dec 2021, 7:08 a.m. | Last Modified: 19 Dec 2021, 7:08 a.m.

Panel Version: 0.10291

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrioventricular septal defect, partial, with heterotaxy syndrome, MIM# 606217

Publications

• 22740159

Red List (low evidence)

No indication in OMIM that this variant is involved in ciliary function or mutation results in a ciliary phenotype.

PMID: 22740159 - 3 heterozygous patients with missense mutations with heterotaxy syndrome

Created: 6 May 2020, 2:12 a.m. | Last Modified: 6 May 2020, 2:12 a.m.

Panel Version: 0.103

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
{Atrioventricular septal defect, susceptibility to, 2} 606217; Atrioventricular septal defect, partial, with heterotaxy syndrome 606217

Publications

• PMID: 22740159