Palmoplantar keratoderma and erythrokeratodermas
Gene: AAGABEnsemblGeneIds (GRCh38): ENSG00000103591
EnsemblGeneIds (GRCh37): ENSG00000103591
OMIM: 614888, Gene2Phenotype
AAGAB is in 3 panels
3 reviews
Veronica Kinsler (UCL)
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Rated as green, and mode of inheritance complete. Not yet a DD-confirmed gene for OMIM:148600 but sufficient evidence from literature and OMIM.Created: 5 Jan 2017, 4:15 p.m.
Comment on list classification: Updating rating from Red to Green: 1 green review plus >3 variants in unrelated cases listed in OMIM for type I punctate palmoplantar keratoderma (OMIM:148600) from different populations (Scottish, Japanese, Tunisian, German and Croatian).Created: 5 Jan 2017, 4:13 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 5 Jan 2017, 4:07 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Keratoderma, palmoplantar, punctate type IA, 148600
- Punctate keratoderma
- Punctate keratoderma and congenital dysplasia of the hip
- PPKP Buschke-Fischer-Brauer type
- OMIM
- 614888
- Clinvar variants
- Variants in AAGAB
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for AAGAB were set to Keratoderma, palmoplantar, punctate type IA, 148600; Punctate keratoderma; Punctate keratoderma and congenital dysplasia of the hip; PPKP Buschke-Fischer-Brauer type;
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for AAGAB were set to 23000146; 23064416; 23563198; 24289292
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for AAGAB were set to Keratoderma, palmoplantar, punctate type IA, 148600; Punctate keratoderma; punctate keratoderma and congenital dysplasia of the hip; PPKP Buschke-Fischer-Brauer type;
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for AAGAB were set to Keratoderma, palmoplantar, punctate type IA, 148600; Punctate keratoderma; punctate keratoderma and congenital dysplasia of the hip; punctate palmoplantar keratoderma (PPKP) type Buschke-Fischer-Brauer;
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for AAGAB was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for AAGAB were set to Keratoderma, palmoplantar, punctate type IA, 148600; Punctate keratoderma; punctate keratoderma and congenital dysplasia of the hip
Created
Ellen McDonagh (Genomics England Curator)AAGAB was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)AAGAB was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Radboud University Medical Center, Nijmegen