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| Holoprosencephaly and septo-optic dysplasia v1.20 | TBC1D32 | Zornitza Stark Marked gene: TBC1D32 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v1.20 | TBC1D32 | Zornitza Stark Gene: tbc1d32 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v1.20 | TBC1D32 | Zornitza Stark Classified gene: TBC1D32 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v1.20 | TBC1D32 | Zornitza Stark Gene: tbc1d32 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v1.19 | TBC1D32 | Zornitza Stark edited their review of gene: TBC1D32: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v1.19 | TBC1D32 |
Zornitza Stark gene: TBC1D32 was added gene: TBC1D32 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Expert Review Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D32 were set to 31130284; 36826837; 32573025 Phenotypes for gene: TBC1D32 were set to Alsahan-Harris syndrome, MIM#621307; Orofaciodigital syndrome type IX, MIM#258865 Added comment: PMIDs 31130284, 36826837 and 32573025: 6 fetuses from 5 unrelated families reported with a very severe fetal phenotype, characterised by brain abnormalities, including holoprosencephaly and anencephaly, and ocular defects including microphthalmia/anophthalmia and cyclopia. This has been given a separate MIM by OMIM but more likely represents the severe end of the spectrum of a broader ciliopathy phenotype. Note previous reports of individuals characterised as having OFD, similarly affected by midline brain abnormalities, again supporting the notion of a spectrum. Sources: Expert Review |
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