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| Repeat Disorders v0.146 | CCHS | Zornitza Stark Marked STR: CCHS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.146 | CCHS | Zornitza Stark Str: cchs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.123 | CCHS | Zornitza Stark Tag paediatric-onset tag was added to STR: CCHS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.44 | CCHS | Bryony Thompson Classified STR: CCHS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.44 | CCHS | Bryony Thompson Str: cchs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.43 | CCHS |
Bryony Thompson STR: CCHS was added STR: CCHS was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: CCHS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: CCHS were set to 12640453; 34012823; 20301600; 18798833 Phenotypes for STR: CCHS were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880 Review for STR: CCHS was set to GREEN STR: CCHS was marked as clinically relevant Added comment: NM_003924.3:c.721_723[X] Mechanism of disease is polyAlanine tract associated with dominant-negative effect. Normal: 20 GCN (alanine) repeats Uncertain significance: 21-23 GCN repeats have not been described in CCHS to date. Later onset: 24 GCN repeats and a subset of individuals with 25 GCN repeats may have a very mild phenotype with delayed onset of the disorder and/or manifestations only when the individual is exposed to respiratory depressants and/or has severe intercurrent pulmonary illness. Neonatal onset: 26-33 GCN repeats, as well as most with 25 GCN repeats, present in the newborn period Sources: Expert list |
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