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| Limb disorders v3.4 | SUFU | Arina Puzriakova Classified gene: SUFU as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v3.4 | SUFU | Arina Puzriakova Added comment: Comment on list classification: Recessive phenotype fits the scope of this panel; however only two cases have been reported to date in a single paper. Monoallelic form does not appear to feature skeletal abnormalities but rather is dominated by neurological phenotypes. Therefore maintaining Amber rating and biallelic MOI on this panel but adding a watchlist tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v3.4 | SUFU | Arina Puzriakova Gene: sufu has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v3.3 | SUFU | Arina Puzriakova Tag watchlist tag was added to gene: SUFU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v3.3 | SUFU | Arina Puzriakova reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: None; Publications: 21289193, 28965847, 33024317, 34675124; Phenotypes: Joubert syndrome 32, OMIM:617757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.84 | SUFU | Arina Puzriakova Phenotypes for gene: SUFU were changed from Joubert syndrome 32, 617757; Joubert Syndrome with Cranio-facial and Skeletal Defects to Joubert syndrome 32, OMIM:617757 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.122 | SUFU | Eleanor Williams Classified gene: SUFU as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.122 | SUFU | Eleanor Williams Added comment: Comment on list classification: 3 out of 4 children from 2 families had post-axial polydactyly so rating amber. Rating agreed with Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.122 | SUFU | Eleanor Williams Gene: sufu has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.42 | SUFU | Eleanor Williams Publications for gene: SUFU were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.41 | SUFU | Eleanor Williams Phenotypes for gene: SUFU were changed from Joubert syndrome 32, 617757); Joubert Syndrome with Cranio-facial and Skeletal Defects to Joubert syndrome 32, 617757; Joubert Syndrome with Cranio-facial and Skeletal Defects | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.40 | SUFU | Eleanor Williams Phenotypes for gene: SUFU were changed from to Joubert syndrome 32, 617757); Joubert Syndrome with Cranio-facial and Skeletal Defects | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.39 | SUFU |
Eleanor Williams commented on gene: SUFU: Associated with Joubert syndrome 32 (#617757) in OMIM and Joubert Syndrome with Cranio-facial and Skeletal Defects in Gene2Phenotype (probable). PMID: 28965847 - Mori et al 2017 - 2 cases. They report four children from two unrelated consanguineous families (from Italy and Egypt) carrying homozygous missense variants (c.1217T>C,p.Ile406Thr and c.1218C>G,p.Ile406Met) in SUFU. The children presented with congenital ataxia and cerebellar vermis hypoplasia with elongated superior cerebellar peduncles (mild "molar tooth sign"), typical cranio-facial dysmorphisms (hypertelorism, depressed nasal bridge, frontal bossing), and 3 had postaxial polydactyly. In family 1, the two affected siblings also had a homozygous missense variant in CDHR1 but is expressed only in the outer nuclear layer of the retina and pathogenic variants of this gene are known to cause an autosomal-recessive form of cone-rod dystrophy with onset in the late second decade of life (older than the probands). Functional studies on fibroblasts and cell lines showed that the mutant proteins were less stable and more rapidly degraded than SUFU WT and had impaired ability to bind GLI3 and promote its cleavage into the repressor form GLI3R, while they maintained unaltered ability to bind GLI1. These findings suggest that both variants are hypomorphic alleles, resulting only in a partial loss of the normal gene function. |
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| Limb disorders v1.24 | SUFU | Andrew Wilkie reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.18 | SUFU |
Eleanor Williams gene: SUFU was added gene: SUFU was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: SUFU was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: SUFU was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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