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| Mendeliome v2.486 | 10q24 duplication syndrome Split hand foot malformation 3 |
Sarah Milton Region: 10q24 duplication syndrome Split hand foot malformation 3 was added Region: 10q24 duplication syndrome Split hand foot malformation 3 was added to Mendeliome. Sources: Literature Mode of inheritance for Region: 10q24 duplication syndrome Split hand foot malformation 3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: 10q24 duplication syndrome Split hand foot malformation 3 were set to 30622331; 27600068; 38168117; 35908152; 23596994 Phenotypes for Region: 10q24 duplication syndrome Split hand foot malformation 3 were set to Split-hand/foot malformation 3, gene duplication syndrome, MIM#246560 Penetrance for Region: 10q24 duplication syndrome Split hand foot malformation 3 were set to Incomplete Review for Region: 10q24 duplication syndrome Split hand foot malformation 3 was set to GREEN Added comment: Tandem genomic duplications at chromosome 10q24 have been reported in at least 50 affected individuals from over 30 families with split hand foot malformation. Duplications encompassed protein coding genes FBXW4, BTRC and ranged in size from 120kb to 597kb. Interestingly very large duplications did not seem to recapitulate the phenotype. The critical gene/molecular mechanism remains unclear. Expression analysis showed BTRC and SUFU were overexpressed in patient cells and as such a beta catenin signalling pathway defect was proposed. Regulatory element disruption and positional effect was also noted as a possibility given all causative CNV’s were duplications. Some reduced penetrance noted. Sources: Literature |
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| Mendeliome v2.0 | SUFU | Gene migrated from ENSG00000107882 to ENSG00000107882 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2871 | SUFU | Zornitza Stark Phenotypes for gene: SUFU were changed from Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental syndrome; Basal cell nevus syndrome, MIM# 109400 to Joubert syndrome 32, MIM#617757; Neurodevelopmental disorder, MONDO:0700092, SUFU-related; Basal cell nevus syndrome, MIM# 109400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2870 | SUFU | Zornitza Stark edited their review of gene: SUFU: Changed phenotypes: Joubert syndrome 32, MIM#617757, Neurodevelopmental disorder, MONDO:0700092, SUFU-related, Basal cell nevus syndrome, MIM# 109400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8434 | SUFU | Zornitza Stark Marked gene: SUFU as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8434 | SUFU | Zornitza Stark Gene: sufu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8434 | SUFU | Zornitza Stark Phenotypes for gene: SUFU were changed from to Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental syndrome; Basal cell nevus syndrome, MIM# 109400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8433 | SUFU | Zornitza Stark Publications for gene: SUFU were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8432 | SUFU | Zornitza Stark Mode of inheritance for gene: SUFU was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8431 | SUFU | Zornitza Stark edited their review of gene: SUFU: Changed phenotypes: Joubert syndrome 32, MIM#617757, SUFU-related neurodevelopmental syndrome, Basal cell nevus syndrome, MIM# 109400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8431 | SUFU | Zornitza Stark changed review comment from: 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.; to: Two unrelated families described with what are postulated to be hypomorphic bi-allelic variants in this gene and Joubert syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8431 | SUFU | Zornitza Stark edited their review of gene: SUFU: Added comment: Mono-allelic variants are also associated with Basal cell nevus syndrome/predisposition to medulloblastoma.; Changed rating: GREEN; Changed publications: 28965847, 19533801, 31485359; Changed phenotypes: Joubert syndrome 32, MIM#617757, Basal cell nevus syndrome, MIM# 109400; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | SUFU |
Zornitza Stark gene: SUFU was added gene: SUFU was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SUFU was set to Unknown |
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