Kabuki syndrome
Gene: RAP1B
RAP1B (RAP1B, member of RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000127314
EnsemblGeneIds (GRCh37): ENSG00000127314
OMIM: 179530, Gene2Phenotype
RAP1B is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000127314
EnsemblGeneIds (GRCh37): ENSG00000127314
OMIM: 179530, Gene2Phenotype
RAP1B is in 9 panels
2 reviews
Helen Savage (Congenica Ltd)
Single report in the literature, however functional studies demonstrated a potentially pathogenic effect.Created: 25 Jan 2016, 5:06 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
- PMID: 26280580
Siddharth Banka banka (Univesrsity of Manchester)
Only one patient reported in the literature.Created: 7 Oct 2015, 8:40 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kabuki-like syndrome
Publications
- PMID: 26280580
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Kabuki-like syndrome
- OMIM
- 179530
- Clinvar variants
- Variants in RAP1B
- Penetrance
- Complete
- Publications
-
- PMID: 26280580
- Panels with this gene
History Filter Activity
3 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
3 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
7 Oct 2015, Gel status: 0
Added New Source
Siddharth Banka banka (Univesrsity of Manchester)RAP1B was added to Kabuki syndromepanel. Sources: Expert Review