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  3. PAFAH1B1
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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 8 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.
Created: 12 Dec 2016, 11:58 a.m.

Panel version: 0.18

Details

Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • UKGTN
Phenotypes
  • Lissencephaly 1, OMIM:607432
  • Subcortical laminar heterotopia, OMIM:607432
OMIM
601545
Clinvar variants
Variants in PAFAH1B1
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Dec 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PAFAH1B1 were changed from Cerebral Malformation Disorders to Lissencephaly 1, OMIM:607432; Subcortical laminar heterotopia, OMIM:607432

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: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PAFAH1B1 was added to Cerebrovascular disorderspanel. Sources: UKGTN

9 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PAFAH1B1 was created by ellenmcdonagh