| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chromosome Breakage Disorders v1.10 | MARS | Zornitza Stark Phenotypes for gene: MARS were changed from Trichothiodystrophy, MONDO:0018053 to Trichothiodystrophy, MONDO:0018053; Trichothiodystrophy 8, nonphotosensitive, MIM# 619691Trichothiodystrophy 9, nonphotosensitive, MIM# 619692 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.9 | MARS | Zornitza Stark edited their review of gene: MARS: Changed phenotypes: Trichothiodystrophy, MONDO:0018053, Trichothiodystrophy 9, nonphotosensitive, MIM# 619692 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.8 | MARS | Zornitza Stark Marked gene: MARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.8 | MARS | Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is MARS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.8 | MARS | Zornitza Stark Gene: mars has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.8 | MARS | Zornitza Stark Tag new gene name tag was added to gene: MARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.8 | MARS | Zornitza Stark Marked gene: MARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.8 | MARS | Zornitza Stark Gene: mars has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.8 | MARS |
Zornitza Stark gene: MARS was added gene: MARS was added to Chromosome Breakage Disorders. Sources: Literature Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS were set to 33909043 Phenotypes for gene: MARS were set to Trichothiodystrophy, MONDO:0018053 Review for gene: MARS was set to RED Added comment: Bi-allelic ariants in this gene are associated with interstitial and liver disease. PMID: 33909043 - Botta et al 2021 - using WES/WGS analysis of 34 unsolved cases with multi-system phenotypes, but with hair alterations that are typical of trichothiodystrophy but no reported photosensitivity, they identified a homozygous variant in one Italian patient (c.1201G > A (p.Val401Me) that is very rare (gnomAD frequency 0.00001414). Functional studies suggest that the variant affects gene product stability. Although chromosome breakage is unlikely to be the underlying mechanism, included in this panel for completeness with a Red rating (one individual reported). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||