Skeletal ciliopathies
Gene: RABL2A
RABL2A (RAB, member of RAS oncogene family like 2A)
EnsemblGeneIds (GRCh38): ENSG00000144134
EnsemblGeneIds (GRCh37): ENSG00000144134
OMIM: 605412, Gene2Phenotype
RABL2A is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000144134
EnsemblGeneIds (GRCh37): ENSG00000144134
OMIM: 605412, Gene2Phenotype
RABL2A is in 2 panels
1 review
Eleanor Williams (Genomics England Curator)
PMID: 33075816 - Ding et al 2020 - with the aim of identifying variants that affect male fertility, the authors report on mice expressing two RABL2A SNPs found to be rare (MAF between 2% and 0.02% in gnomAD, with a deleterious prediction from SIFT and PolyPhen-2, and to affect protein stability. Mice homozygous for these variants (p.L119F and p.V158F) were found to be show ciliopathy-associated disorders including male infertility, early growth retardation, excessive weight gain in adulthood, heterotaxia, pre-axial polydactyly, neural tube defects and hydrocephalus.
Sources: LiteratureCreated: 6 Jan 2021, 6:31 p.m.
Mode of inheritance
Unknown
Phenotypes
polydactyly; growth retardation
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Literature
- Phenotypes
-
- polydactyly
- growth retardation
- OMIM
- 605412
- Clinvar variants
- Variants in RABL2A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
6 Jan 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: RABL2A was added gene: RABL2A was added to Skeletal ciliopathies. Sources: Literature Mode of inheritance for gene: RABL2A was set to Unknown Publications for gene: RABL2A were set to 33075816 Phenotypes for gene: RABL2A were set to polydactyly; growth retardation Review for gene: RABL2A was set to RED