This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: KRIT1
KRIT1 (KRIT1, ankyrin repeat containing)
EnsemblGeneIds (GRCh38): ENSG00000001631
EnsemblGeneIds (GRCh37): ENSG00000001631
OMIM: 604214, Gene2Phenotype
KRIT1 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000001631
EnsemblGeneIds (GRCh37): ENSG00000001631
OMIM: 604214, Gene2Phenotype
KRIT1 is in 6 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on list classification: In OMIM associated with Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations (MIM: 116860), Cerebral cavernous malformations-1 (MIM:116860) and Cavernous malformations of CNS and retina (MIM:116860). In Gene2Phenotype associated with CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1. No mention of intellectual disability phenotype with these disorders, or in PubMed search for gene.Created: 8 Mar 2018, 9:48 a.m.
Details
- Sources
-
- Expert Review Red
- OMIM
- 604214
- Clinvar variants
- Variants in KRIT1
- Penetrance
- None
- Panels with this gene
History Filter Activity
8 Mar 2018, Gel status: 1
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
8 Mar 2018, Gel status: 1
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
18 Dec 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)KRIT1 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red
18 Dec 2017, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)KRIT1 was created by Ellen McDonagh