Ehlers Danlos syndrome with a likely monogenic cause
Gene: RIN2Comment on phenotypes: Previous phenotypes:
Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075;RIN2 syndrome;MACS syndromeCreated: 18 Mar 2021, 1:57 p.m. | Last Modified: 18 Mar 2021, 1:57 p.m.
Panel Version: 2.40
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: RIN2; Suggested initial gene rating: greenCreated: 3 Apr 2019, 3:41 p.m.
Comment on list classification: Promoted from Red to Green due to evidence in the literatureCreated: 11 May 2017, 11:55 a.m.
Added to panel as can present with clinical features overlapping EDSCreated: 11 May 2017, 8:46 a.m.
Comment on publications: to support evidence that variants of RIN2 causes cutis laxaCreated: 11 May 2017, 8:46 a.m.
Comment on mode of inheritance: Confirmed on G2P and OMIMCreated: 11 May 2017, 8:44 a.m.
Phenotypes for gene: RIN2 were changed from Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075; RIN2 syndrome; MACS syndrome to Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075
Source NHS GMS was added to RIN2. Rating Changed from Green List (high evidence) to Green List (high evidence)
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for RIN2 were set to Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075; RIN2 syndrome; MACS syndrome
This gene has been classified as Green List (High Evidence).
Publications for RIN2 were set to 19631308; 24449201; 20424861;27277385
Phenotypes for RIN2 were set to Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075; RIN2 syndrome, MACS syndrome
Publications for RIN2 were set to 19631308;24449201;20424861
Mode of inheritance for RIN2 was changed to BIALLELIC, autosomal or pseudoautosomal
RIN2 was created by ellenmcdonagh
RIN2 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen