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| Hereditary Neuropathy - complex v0.153 | CTDP1 | Zornitza Stark Marked gene: CTDP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.153 | CTDP1 | Zornitza Stark Gene: ctdp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.153 | CTDP1 | Zornitza Stark Phenotypes for gene: CTDP1 were changed from Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN); HMSN to Congenital cataracts, facial dysmorphism, and neuropathy (MIM#604168) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.152 | CTDP1 | Zornitza Stark Publications for gene: CTDP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.151 | CTDP1 |
Zornitza Stark Tag deep intronic tag was added to gene: CTDP1. Tag founder tag was added to gene: CTDP1. |
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| Hereditary Neuropathy - complex v0.151 | CTDP1 | Zornitza Stark reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy (MIM#604168); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.149 | CTDP1 | Sangavi Sivagnanasundram reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301787; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy (MIM#604168); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.0 | CTDP1 |
Bryony Thompson gene: CTDP1 was added gene: CTDP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTDP1 were set to Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN); HMSN |
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