Cerebral vascular malformations

Gene: PAFAH1B1

Red List (low evidence)

PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000007168
EnsemblGeneIds (GRCh37): ENSG00000007168
OMIM: 601545, Gene2Phenotype
PAFAH1B1 is in 9 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Comment when marking as ready: Not associated with cerebral vascular malformations
Created: 12 Dec 2016, 11:58 a.m.
Not associated with cerebral vascular malformations
Created: 12 Dec 2016, 11:58 a.m.

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 PAFAH1B1.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PAFAH1B1.

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: 0

Created

Ellen McDonagh (Genomics England Curator)

PAFAH1B1 was created by ellenmcdonagh

9 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PAFAH1B1 was added to Cerebrovascular disorderspanel. Sources: UKGTN