Aortopathy_Connective Tissue Disorders
Gene: RIN2EnsemblGeneIds (GRCh38): ENSG00000132669
EnsemblGeneIds (GRCh37): ENSG00000132669
OMIM: 610222, Gene2Phenotype
RIN2 is in 8 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
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: LiteratureCreated: 8 Jul 2020, 12:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Macrocephaly, alopecia, cutis laxa, and scoliosis (MIM# 613075)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Macrocephaly, alopecia, cutis laxa, and scoliosis (MIM# 613075)
- OMIM
- 610222
- Clinvar variants
- Variants in RIN2
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rin2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rin2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)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