Cerebral vascular malformations

Gene: NIN

Red List (low evidence)

NIN (ninein)
EnsemblGeneIds (GRCh38): ENSG00000100503
EnsemblGeneIds (GRCh37): ENSG00000100503
OMIM: 608684, Gene2Phenotype
NIN is in 4 panels

1 review

Alice Gardham (Genomics England)

I don't know

Comment when marking as ready: Mutations only identified in one family with Seckel syndrome
Created: 15 Dec 2016, 9:08 a.m.
Moyamoya and intracerebral aneurysms associated with Seckel syndrome
Created: 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
  • 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