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| Mendeliome v0.9714 | HKDC1 | Zornitza Stark Marked gene: HKDC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9714 | HKDC1 | Zornitza Stark Gene: hkdc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9714 | HKDC1 |
Zornitza Stark gene: HKDC1 was added gene: HKDC1 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: HKDC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HKDC1 were set to 30085091 Phenotypes for gene: HKDC1 were set to Retinitis pigmentosa 92, MIM# 619614 Review for gene: HKDC1 was set to RED Added comment: Two unrelated Chinese men reported with relatively late-onset RP, and same homozygous missense variant. Sources: Expert Review |
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