Holoprosencephaly

Gene: FGF8

Green List (high evidence)

FGF8 (fibroblast growth factor 8)
EnsemblGeneIds (GRCh38): ENSG00000107831
EnsemblGeneIds (GRCh37): ENSG00000107831
OMIM: 600483, Gene2Phenotype
FGF8 is in 9 panels

4 reviews

Louise Daugherty (Genomics England Curator)

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:13 p.m. | Last Modified: 29 Jul 2019, 2:13 p.m.
Panel Version: 1.20

Helen Brittain (Genomics England Curator)

Comment when marking as ready: 4 cases in PMID 27363716. Considered sufficient evidence
Created: 30 May 2017, 3:42 p.m.
Comment on list classification: 4 unrelated cases in PMID 27363716 with holoprosencephaly. 3 missense, 1 nonsense.
Created: 30 May 2017, 3:41 p.m.

Lara Menzies (Great Ormond Street Hospital )

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
612702

Richard Scott (Genomics England Curator)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
612702

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Holoprosencephaly
OMIM
600483
Clinvar variants
Variants in FGF8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to FGF8.

31 May 2017, Gel status: 4

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted to version one after review within the genomics England curation team.

31 May 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for FGF8 were set to Holoprosencephaly

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

30 May 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for FGF8 were set to 612702; holoprosencephaly

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Dec 2016, Gel status: 0

Added New Source

Richard Scott (Genomics England Curator)

FGF8 was added to Holoprosencephalypanel. Sources: Expert list

2 Dec 2016, Gel status: 0

Created

Richard Scott (Genomics England Curator)

FGF8 was created by richardhywel