Rare multisystem ciliopathy disorders
Gene: MAPKBP1
MAPKBP1 (mitogen-activated protein kinase binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000137802
EnsemblGeneIds (GRCh37): ENSG00000137802
OMIM: 616786, Gene2Phenotype
MAPKBP1 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000137802
EnsemblGeneIds (GRCh37): ENSG00000137802
OMIM: 616786, Gene2Phenotype
MAPKBP1 is in 7 panels
1 review
Alice Gardham (Genomics England)
8 affected patients in 5 different families identified. Only published Jan 2017Created: 25 Jan 2017, 2:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 20 617271
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Nephronophthisis 20 617271
- OMIM
- 616786
- Clinvar variants
- Variants in MAPKBP1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
26 Jan 2017, Gel status: 4
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
25 Jan 2017, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
25 Jan 2017, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
25 Jan 2017, Gel status: 0
Created
Alice Gardham (Genomics England)MAPKBP1 was created by agardham
25 Jan 2017, Gel status: 0
Added New Source
Alice Gardham (Genomics England)MAPKBP1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Literature