| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Anophthalmia_Microphthalmia_Coloboma v1.50 | TBC1D32 | Zornitza Stark Marked gene: TBC1D32 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v1.50 | TBC1D32 | Zornitza Stark Gene: tbc1d32 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v1.50 | TBC1D32 | Zornitza Stark Classified gene: TBC1D32 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v1.50 | TBC1D32 | Zornitza Stark Gene: tbc1d32 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v1.49 | TBC1D32 |
Zornitza Stark gene: TBC1D32 was added gene: TBC1D32 was added to Anophthalmia_Microphthalmia_Coloboma. 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 Review for gene: TBC1D32 was set to GREEN 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. Sources: Expert Review |
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