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| Genomic newborn screening: BabyScreen+ v0.1408 | SMPX | Seb Lunke Marked gene: SMPX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1408 | SMPX | Seb Lunke Gene: smpx has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1408 | SMPX |
Seb Lunke changed review comment from: Established gene-disease association. Childhood onset, neuro-muscular disorder Treatment: no specific treatment available Non-genetic confirmatory test: not assessed; to: Established gene-disease association. Childhood onset, deafness Treatment: no specific treatment available Non-genetic confirmatory test: not assessed |
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| Genomic newborn screening: BabyScreen+ v0.1408 | SMPX | Seb Lunke Phenotypes for gene: SMPX were changed from Deafness, X-linked to Deafness, X-linked 4, MIM# 300066 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1407 | SMPX | Seb Lunke Classified gene: SMPX as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1407 | SMPX | Seb Lunke Gene: smpx has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1406 | SMPX | Seb Lunke reviewed gene: SMPX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, X-linked 4, MIM# 300066 Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | SMPX |
Zornitza Stark gene: SMPX was added gene: SMPX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SMPX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SMPX were set to Deafness, X-linked |
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