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Intellectual disability

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

1 review

Catherine Snow (Genomics England)

Comment on mode of inheritance: From 'Fetal [email protected] panel - Changed MOI from 'both biallelic and monoallelic' to biallelic based on comment by Deirdre Cilliers: Joubert syndrome 32 (MIM:617757) has biallelic inheritance, and Basal cell nevus syndrome (MIM:109400) has monoallelic inheritance.
Created: 4 Jun 2019, 3:57 p.m.
Comment on list classification: Gene identified in literature PMID:30914295 as missing in PanelApp compared to other curated gene list for ID genes.

SUFU has four disease phenotypes associated in OMIM in which just one is relevant for ID phenotype - Joubert syndrome 32, 617757.

In 4 children from 2 unrelated consanguineous families (Egyptian and Italian) with Joubert syndrome-32 (JBTS32; 617757), De Mori et al. (2017, PMID:28965847) identified 2 different homozygous missense mutations in the SUFU gene, mild ID reported in both families.

SUFU is Amber on the related 'Rare multisystem ciliopathy disorders' panel (for Joubert syndrome) and Amber on the 'Fetal anomalies' panel. Likewise due to number of cases SUFU will be classed as Amber.
Created: 4 Jun 2019, 3:57 p.m.

History Filter Activity

25 Jul 2019, Gel status: 2

Added Tag

Catherine Snow (Genomics England)

Tag watchlist tag was added to gene: SUFU.

25 Jul 2019, Gel status: 2

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene SUFU was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2019, Gel status: 2

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

Catherine Snow (Genomics England)

gene: SUFU was added gene: SUFU was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: SUFU was set to Publications for gene: SUFU were set to 28965847; 30914295 Phenotypes for gene: SUFU were set to Joubert syndrome 32, 617757