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| Hereditary Neuropathy - complex v0.71 | SGPL1 | Zornitza Stark Marked gene: SGPL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.71 | SGPL1 | Zornitza Stark Gene: sgpl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.71 | SGPL1 | Zornitza Stark Classified gene: SGPL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.71 | SGPL1 | Zornitza Stark Gene: sgpl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.69 | SGPL1 |
Crystle Lee gene: SGPL1 was added gene: SGPL1 was added to Hereditary Neuropathy - complex. Sources: Expert Review Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGPL1 were set to 28077491; 28165339; 30274713; 28165343 Phenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14 (MIM#617575) Review for gene: SGPL1 was set to AMBER Added comment: Peripheral neuropathy has been reported in patients however does not appear to be consistent feature. PMID: 28077491: Reported as a cause of CMT in 2 sibs PMID: 28165339: Reported 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects. Peripheral neuropathy (motor and sensory) reported in one family. PMID: 30274713: Review article. Sources: Expert Review |
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