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| Mendeliome v0.7166 | SMPD1 |
Zornitza Stark changed review comment from: Well established gene-disease association.; to: Niemann-Pick disease (NPD) refers to a group of disorders that present with varying degrees of lipid storage and foam cell infiltration in tissues, as well as overlapping clinical features including hepatosplenomegaly, pulmonary insufficiency and/or central nervous system (CNS) involvement. Type A NPD patients exhibit hepatosplenomegaly in infancy and profound CNS involvement. They rarely survive beyond 2-3years of age. Type B patients also have hepatosplenomegaly and pathologic alterations of their lungs, but there are usually no CNS signs. The age of onset and rate of disease progression varies greatly among type B patients, and they frequently live into adulthood. Intermediate patients also have been reported with mild to moderate neurological findings. Well established gene-disease association. |
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| Mendeliome v0.7166 | SMPD1 | Zornitza Stark Marked gene: SMPD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7166 | SMPD1 | Zornitza Stark Gene: smpd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7166 | SMPD1 | Zornitza Stark Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, MIM# 257200; MONDO:0009756; Niemann-Pick disease, type B, MIM# 607616; MONDO:0011871 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7165 | SMPD1 | Zornitza Stark Publications for gene: SMPD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7164 | SMPD1 | Zornitza Stark Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7163 | SMPD1 | Zornitza Stark reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32292456, 32280632, 28164782; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, MONDO:0009756, Niemann-Pick disease, type B, MIM# 607616, MONDO:0011871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | SMPD1 |
Zornitza Stark gene: SMPD1 was added gene: SMPD1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SMPD1 was set to Unknown |
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