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  2. Kabuki syndrome
  3. RAP1A
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Kabuki syndrome

Gene: RAP1A

Red List (low evidence)
RAP1A (RAP1A, member of RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000116473
EnsemblGeneIds (GRCh37): ENSG00000116473
OMIM: 179520, Gene2Phenotype
RAP1A is in 1 panel

2 reviews

Helen Savage (Congenica Ltd)

Red List (low evidence)

Single report in the literature, but functional studies demonstrated a potentially pathogenic effect.
Created: 25 Jan 2016, 5:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 25 Jan 2016, 5:05 p.m.

Panel version: 0.2

Siddharth Banka banka (Univesrsity of Manchester)

Red List (low evidence)

Only one patient reported in the literature.
Created: 7 Oct 2015, 8:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kabuki-like syndrome

Publications

Created: 7 Oct 2015, 8:36 a.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Kabuki-like syndrome
OMIM
179520
Clinvar variants
Variants in RAP1A
Penetrance
Complete
Publications
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).

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)

RAP1A was added to Kabuki syndromepanel. Sources: Expert Review