Holoprosencephaly - NOT chromosomal
Gene: FGF8

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

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.

Created: 30 May 2017, 3:41 p.m.

Panel version: 0.24

Lara Menzies (Great Ormond Street Hospital )

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
612702

Created: 30 May 2017, 2:17 p.m.

Panel version: 0.18

Richard Scott (Genomics England Curator)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
612702

Publications

27363716

Created: 2 Dec 2016, 9:50 a.m.

Panel version: 0.13

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green
Expert list

Phenotypes

Holoprosencephaly

OMIM

600483

Clinvar variants

Variants in FGF8

Penetrance

Complete

Publications

27363716

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