Skeletal ciliopathies

Gene: RABL2A

Red List (low evidence)

RABL2A (RAB, member of RAS oncogene family like 2A)
EnsemblGeneIds (GRCh38): ENSG00000144134
EnsemblGeneIds (GRCh37): ENSG00000144134
OMIM: 605412, Gene2Phenotype
RABL2A is in 2 panels

1 review

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

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: Literature
Created: 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