Holoprosencephaly - NOT chromosomal
Gene: SUFUEnsemblGeneIds (GRCh38): ENSG00000107882
EnsemblGeneIds (GRCh37): ENSG00000107882
OMIM: 607035, Gene2Phenotype
SUFU is in 21 panels
4 reviews
Louise Daugherty (Genomics England Curator)
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 evidenceCreated: 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 )
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Amber
- Expert Review
- Phenotypes
-
- Basal cell nevus syndrome, OMIM:109400
- Tags
- OMIM
- 607035
- Clinvar variants
- Variants in SUFU
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Limb disorders
- Ophthalmological ciliopathies
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Fetal anomalies
- Genodermatoses with malignancies
- Adult solid tumours for rare disease
- Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Familial tumours of the nervous system
- Childhood solid tumours
- Skeletal ciliopathies
- Neurological ciliopathies
- Adult solid tumours cancer susceptibility
- Holoprosencephaly - NOT chromosomal
- Rare multisystem ciliopathy disorders
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SUFU were changed from Basal cell nevus syndrome, 109400 to Basal cell nevus syndrome, OMIM:109400
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SUFU.
Added Tag
Louise Daugherty (Genomics England Curator)Tag watchlist tag was added to gene: SUFU.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: SUFU were changed from 109400 to Basal cell nevus syndrome, 109400
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: SUFU were set to 27363716
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted to version one after review within the genomics England curation team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Richard Scott (Genomics England Curator)SUFU was added to Holoprosencephalypanel. Sources: Expert Review
Created
Richard Scott (Genomics England Curator)SUFU was created by richardhywel