Holoprosencephaly

Gene: SUFU

Amber List (moderate evidence)

SUFU (SUFU negative regulator of hedgehog signaling)
EnsemblGeneIds (GRCh38): ENSG00000107882
EnsemblGeneIds (GRCh37): ENSG00000107882
OMIM: 607035, Gene2Phenotype
SUFU is in 18 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Discussed in the GMS Neurology Specialist Test Group webex call 11th July 2019 for possible upgrading from Amber to Green, Astrid Weber (Liverpool Womens NHS Foundation Trust) said they would would add the evidence for further review. Subsequently, PMID:27363616 and PMID:2977100 were added and reviewed again, and was agreed that they are established causative genes only. The same DLL1 variant was found in two affected individuals but only a VUS in a third (inherited from a normal parent and with a variant in a different gene also). A SUFU variant was only found in one patient. Astrid Weber agreed that neither of these meet criteria for green status. In light of this, it it was decided to leave DLL1 and SUFU as Amber, whilst awaiting further evidence
Created: 29 Jul 2019, 1:16 p.m. | Last Modified: 29 Jul 2019, 1:16 p.m.
Panel Version: 1.17

Helen Brittain (Genomics England Curator)

Comment on list classification: See PMID 27363716. One case reported. Unable to consider diagnostic grade on the current level of evidence.
Created: 30 May 2017, 3:57 p.m.

Lara Menzies (Great Ormond Street Hospital )

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
109400

Richard Scott (Genomics England Curator)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
109400

Publications

History Filter Activity

29 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SUFU.

29 Jul 2019, Gel status: 2

Added Tag

Louise Daugherty (Genomics England Curator)

Tag watchlist tag was added to gene: SUFU.

29 Jul 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SUFU were changed from 109400 to Basal cell nevus syndrome, 109400

29 Jul 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SUFU were set to 27363716

31 May 2017, Gel status: 2

panel promoted to version 1

Helen Brittain (Genomics England Curator)

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

30 May 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

30 May 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

2 Dec 2016, Gel status: 0

Added New Source

Richard Scott (Genomics England Curator)

SUFU was added to Holoprosencephalypanel. Sources: Expert Review

2 Dec 2016, Gel status: 0

Created

Richard Scott (Genomics England Curator)

SUFU was created by richardhywel