Gene Symbol:
SUFU
HGNC:16466
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
10q24.32
Filters:

Ambry Genetics classifications

Joubert syndrome 32
Submitted as: OMIM:617757
AR
01/31/2023
Evaluated
08/19/2023
Submitted
medulloblastoma
Submitted as: OMIM:155255
AD
08/05/2017
Evaluated
09/28/2021
Submitted
AD
01/31/2023
Evaluated
08/19/2023
Submitted

ClinGen classifications

Genomics England PanelApp classifications

nevoid basal cell carcinoma syndrome
Submitted as: OMIM:109400
AD
01/29/2021
Evaluated
03/31/2021
Submitted

Illumina classifications

nevoid basal cell carcinoma syndrome
AD
09/08/2020
Evaluated
10/15/2020
Submitted
Illumina
Evidence: The SUFU gene is located on chromosome 10 at 10q24.32 and encodes the suppressor of fused homolog pr... Read more

Invitae classifications

Joubert syndrome 32
Submitted as: OMIM:617757
AR
12/15/2018
Evaluated
11/30/2023
Submitted
medulloblastoma
Submitted as: OMIM:155255
AD
04/09/2020
Evaluated
11/30/2023
Submitted

Orphanet classifications

nevoid basal cell carcinoma syndrome
Submitted as: Orphanet:377
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Joubert syndrome
Submitted as: Orphanet:475
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Franklin by Genoox classifications

ocular motor apraxia, Cogan type
AD
11/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: 15 individuals from six families with a clinical diagnosis of COMA underwent exome sequancing which... Read more

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