Clefting disorders
Gene: CRELD1EnsemblGeneIds (GRCh38): ENSG00000163703
EnsemblGeneIds (GRCh37): ENSG00000163703
OMIM: 607170, Gene2Phenotype
CRELD1 is in 11 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
2 families with cleft palate, intra-familial variability noted
Sources: LiteratureCreated: 2 Oct 2024, 11:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771
- OMIM
- 607170
- Clinvar variants
- Variants in CRELD1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: creld1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: creld1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)gene: CRELD1 was added gene: CRELD1 was added to Clefting disorders. Sources: Literature Mode of inheritance for gene: CRELD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRELD1 were set to 37947183 Phenotypes for gene: CRELD1 were set to Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771 Review for gene: CRELD1 was set to AMBER gene: CRELD1 was marked as current diagnostic