Tumour predisposition - childhood onset

Gene: SUFU

Green List (high evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green
Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
SUFU is associated with a phenotype in OMIM and probably associated with a phenotype in Gene2Phenotype. There are >3 unrelated cases of patients with different germline variants in SUFU who have Basal cell nevus syndrome or Medulloblastoma. Therefore, there is enough evidence to promote this gene to green status.
Created: 25 Jun 2019, 3:11 p.m. | Last Modified: 25 Jun 2019, 3:11 p.m.
Panel Version: 1.24

Publications

Lara Hawkes (Genomics England)

Green List (high evidence)

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

Phenotypes
SUFU associated Medulloblastoma

History Filter Activity

2 Aug 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SUFU. Mode of inheritance for gene SUFU was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes SUFU associated Medulloblastoma for gene: SUFU Publications for gene SUFU were changed from 19533801; 29186568; 22829011; 25403219 to 19533801

25 Jun 2019, Gel status: 3

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Ivone Leong (Genomics England Curator)

Source Expert list was added to SUFU. Source Expert Review Green was added to SUFU. Mode of inheritance for gene SUFU was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Medulloblastoma, desmoplastic, 155255; Basal cell nevus syndrome, 109400 for gene: SUFU Publications for gene SUFU were changed from to 19533801; 29186568; 22829011; 25403219 Rating Changed from Red List (low evidence) to Green List (high evidence)

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: SUFU was added gene: SUFU was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: SUFU was set to