Cerebral vascular malformations

Gene: STAMBP

Red List (low evidence)

STAMBP (STAM binding protein)
EnsemblGeneIds (GRCh38): ENSG00000124356
EnsemblGeneIds (GRCh37): ENSG00000124356
OMIM: 606247, Gene2Phenotype
STAMBP is in 8 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Comment when marking as ready: Not associated with cerebral vascular malformations. Capillary malformations in skin rather than brain
Created: 12 Dec 2016, 12:06 p.m.
Not associated with cerebral vascular malformations. Capillary malformations in skin rather than brain
Created: 12 Dec 2016, 12:06 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly-capillary malformation syndrome, 614261
  • Microcephaly-capillary malformation syndrome
OMIM
606247
Clinvar variants
Variants in STAMBP
Penetrance
Complete
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 STAMBP.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STAMBP.

19 Dec 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

12 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).

9 Dec 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

STAMBP was added to Cerebrovascular disorderspanel. Source: Other Model of inheritance for gene STAMBP was set to BIALLELIC, autosomal or pseudoautosomal

9 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STAMBP was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen

9 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

STAMBP was created by ellenmcdonagh