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Mosaic brain disorders - deep sequencing

Gene: PAFAH1B1

Green List (high evidence)
PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000007168
EnsemblGeneIds (GRCh37): ENSG00000007168
OMIM: 601545, Gene2Phenotype
PAFAH1B1 is in 8 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 11 Oct 2023, 8:53 a.m.
Last Modified: 11 Oct 2023, 8:53 a.m.
Panel version: 0.133

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lissencephaly 1, Subcortical laminar heterotopia, OMIM:607432

Publications

Created: 31 May 2023, 9:33 a.m.
Last Modified: 31 May 2023, 9:33 a.m.
Panel version: 0.100

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 5:26 p.m. | Last Modified: 1 Feb 2023, 5:28 p.m.
Panel Version: 0.93
Review submitted on behalf of Dr Lara Menzies, Dr Wendy Jones, Dr Amy McTague. Mode of inheritance: AD, mosaic. Publications: For summary see Gene Reviews PAFAH1B1-Related Lissencephaly/Subcortical Band Heterotopia by Brock et al, last updated 2021. also see Jamuar et al 2013 NEJM. Mechanism: no information provided. Penetrance: no information provided.
Created: 21 Dec 2022, 12:16 p.m. | Last Modified: 21 Dec 2022, 12:16 p.m.
Panel Version: 0.2

Phenotypes
Lissencephaly, subcortical band heterotopia

Created: 21 Dec 2022, 12:16 p.m.
Last Modified: 1 Feb 2023, 5:28 p.m.
Panel version: 0.93

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Lissencephaly 1, OMIM:607432
  • Subcortical laminar heterotopia, OMIM:607432
Tags
somatic
OMIM
601545
Clinvar variants
Variants in PAFAH1B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2023, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to PAFAH1B1.

31 May 2023, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: PAFAH1B1 were set to

21 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pafah1b1 has been classified as Green List (High Evidence).

21 Dec 2022, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag somatic tag was added to gene: PAFAH1B1.

21 Dec 2022, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: PAFAH1B1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

21 Dec 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

21 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: PAFAH1B1 was added gene: PAFAH1B1 was added to Mosaic brain disorders. Sources: Expert list Mode of inheritance for gene: PAFAH1B1 was set to