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| Hereditary Neuropathy - complex v0.209 | AP1S1 | Zornitza Stark Marked gene: AP1S1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.209 | AP1S1 | Zornitza Stark Gene: ap1s1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.209 | AP1S1 | Zornitza Stark Phenotypes for gene: AP1S1 were changed from Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma to MEDNIK Syndrome (MONDO:0012251, MIM#609313); Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.208 | AP1S1 | Zornitza Stark Publications for gene: AP1S1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.207 | AP1S1 | Zornitza Stark reviewed gene: AP1S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30244301; Phenotypes: MEDNIK syndrome (MIM#609313); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.205 | AP1S1 | Sangavi Sivagnanasundram reviewed gene: AP1S1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23423674; Phenotypes: MEDNIK Syndrome (MONDO:0012251, MIM#609313); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.0 | AP1S1 |
Bryony Thompson gene: AP1S1 was added gene: AP1S1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP1S1 were set to Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma |
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