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| Skeletal ciliopathies v2.3 | SUFU | Arina Puzriakova Classified gene: SUFU as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v2.3 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v2.3 | SUFU | Arina Puzriakova Gene: sufu has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v2.2 | SUFU | Arina Puzriakova Tag watchlist tag was added to gene: SUFU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v2.2 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v1.19 | SUFU | Arina Puzriakova Phenotypes for gene: SUFU were changed from Joubert syndrome 32, 617757 to Joubert syndrome 32, OMIM:617757 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.21 | SUFU | Eleanor Williams changed review comment from: PMID:28965847 - De Mori et al 2017 - All subjects presented peculiar facial dysmorphisms (hypertelorism, broad and depressed nasal bridge, frontal bossing), oculomotor apraxia, developmental delay with mild intellectual impairment, gait ataxia, and dysarthria. Three of them had post-axial polydactyly and two had global macrosomia with macrocephaly. One child also showed a few small dyskeratotic pits on the foot soles; to: PMID:28965847 - De Mori et al 2017 - 4 subjects from 2 families. All subjects presented peculiar facial dysmorphisms (hypertelorism, broad and depressed nasal bridge, frontal bossing), oculomotor apraxia, developmental delay with mild intellectual impairment, gait ataxia, and dysarthria. Three of them had post-axial polydactyly and two had global macrosomia with macrocephaly. One child also showed a few small dyskeratotic pits on the foot soles | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.6 | SUFU | Eleanor Williams commented on gene: SUFU | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.4 | SUFU |
Eleanor Williams gene: SUFU was added gene: SUFU was added to Skeletal ciliopathies. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: SUFU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUFU were set to 28965847 Phenotypes for gene: SUFU were set to Joubert syndrome 32, 617757 |
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