Cerebral vascular malformations
Gene: NIN
NIN (ninein)
EnsemblGeneIds (GRCh38): ENSG00000100503
EnsemblGeneIds (GRCh37): ENSG00000100503
OMIM: 608684, Gene2Phenotype
NIN is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000100503
EnsemblGeneIds (GRCh37): ENSG00000100503
OMIM: 608684, Gene2Phenotype
NIN is in 3 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Mutations only identified in one family with Seckel syndromeCreated: 15 Dec 2016, 9:08 a.m.
Moyamoya and intracerebral aneurysms associated with Seckel syndromeCreated: 14 Dec 2016, 5:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome 7 614851
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Seckel syndrome 7 614851
- OMIM
- 608684
- Clinvar variants
- Variants in NIN
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to NIN.
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NIN.
19 Dec 2016, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
15 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
15 Dec 2016, Gel status: 1
Set publications
Alice Gardham (Genomics England)Publications for NIN were set to 22933543
14 Dec 2016, Gel status: 1
Added New Source
Alice Gardham (Genomics England)NIN was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen
14 Dec 2016, Gel status: 0
Created
Alice Gardham (Genomics England)NIN was created by agardham