| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aortopathy_Connective Tissue Disorders v0.146 | RIN2 | Zornitza Stark Marked gene: RIN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.146 | RIN2 | Zornitza Stark Gene: rin2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.146 | RIN2 | Zornitza Stark Classified gene: RIN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.146 | RIN2 | Zornitza Stark Gene: rin2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.138 | RIN2 |
Ain Roesley gene: RIN2 was added gene: RIN2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIN2 were set to 19631308; 20424861; 23963297; 24449201 Phenotypes for gene: RIN2 were set to Macrocephaly, alopecia, cutis laxa, and scoliosis (MIM# 613075) Penetrance for gene: RIN2 were set to unknown Review for gene: RIN2 was set to GREEN Added comment: Also known as MACS syndrome. The most striking clinical features include macrocephaly, progressive facial coarsening, gingival hypertrophy, severe scoliosis, sparse hair and skin and joint hyperlaxity. All families reported thus far are homozygous for PTVs PMID: 19631308; 1x large consanguineous kindred with 3 affecteds PMID: 20424861; 1x consanguineous Algerian family with three affected siblings. PMID: 23963297; 1x patient with MACS syndrome and an additional phenotype of periventricular cystic lesions PMID: 24449201; 2 sibs born to non-consanguineous Turkish parents exhibiting additional clinical features of bronchiectasis and hypergonadotropic hypogonadism. Sources: Literature |
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