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Fetal anomalies

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 16 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Heterozygous truncating variants in SUFU in 15 subjects from 6 unrelated families of various ethnic backgrounds (familial and de novo cases). Clinical features of early-onset (congenital) ocular ataxia and developmental delay, with some phenotypic variability. Neuroimaging revealed subtle cerebellar changes, but no full-blown molar tooth sign of Joubert syndrome. Paper reports that condition reported here and SUFU-associated Basal cell nevus syndrome (Gorlin) are likely allelic disorders, as there is currently no convincing evidence for a clinical overlap.

Functional studies showed no differences in cilia occurrence, morphology, or localization of ciliary proteins, such as smoothened. However, analysis of expression of HH signaling target genes detected a significant increase in the general signaling activity in COMA patient–derived fibroblasts compared with control cells. We observed higher basal HH signaling activity resulting in increased basal expression levels of GLI1, GLI2, GLI3, and Patched1. Neuroimaging revealed subtle cerebellar changes, but no full-blown molar tooth sign. Knockout mice with SuFu deficiency demonstrated that SuFu is required for proper midhindbrain patterning and controls cerebellar patterning.
Created: 8 Feb 2021, 1:53 a.m. | Last Modified: 8 Feb 2021, 1:53 a.m.
Panel Version: 0.92

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
congenital ocular motor apraxia (forme fruste of Joubert syndrome)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Feb 2021, 1:53 a.m.
Last Modified: 8 Feb 2021, 1:53 a.m.
Panel version: Imported from Joubert syndrome and other neurological ciliopathies panel version 0.92

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Rib anomalies and cleft palate are a feature of the mono-allelic disorder.

The signs of the bi-alellic disorder are relatively subtle and unlikely to be detectable antenatally.
Created: 19 Jan 2022, 8:52 p.m. | Last Modified: 19 Jan 2022, 8:52 p.m.
Panel Version: 0.2489
Two unrelated families described with what are postulated to be hypomorphic bi-allelic variants in this gene and Joubert syndrome. Note gene also causes dominant Basal Cell Nevus Syndrome.
Created: 29 Feb 2020, 6:11 a.m. | Last Modified: 29 Feb 2020, 6:11 a.m.
Panel Version: 0.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Basal cell nevus syndrome, MIM# 109400

Publications

Created: 29 Feb 2020, 6:11 a.m.
Last Modified: 29 Feb 2020, 6:11 a.m.
Panel version: 0.2489

History Filter Activity

19 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sufu has been classified as Green List (High Evidence).

19 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SUFU were changed from Joubert syndrome 32, OMIM: 617757; Joubert Syndrome with Cranio-facial and Skeletal Defects to Basal cell nevus syndrome, MIM# 109400

19 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SUFU was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sufu has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SUFU was added gene: SUFU was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SUFU was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SUFU were set to 21289193; 33024317; 28965847 Phenotypes for gene: SUFU were set to Joubert syndrome 32, OMIM: 617757; Joubert Syndrome with Cranio-facial and Skeletal Defects