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Mendeliome

Gene: RIN2

Green List (high evidence)

RIN2 (Ras and Rab interactor 2)
EnsemblGeneIds (GRCh38): ENSG00000132669
EnsemblGeneIds (GRCh37): ENSG00000132669
OMIM: 610222, Gene2Phenotype
RIN2 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported.
Created: 16 Feb 2022, 5:55 a.m. | Last Modified: 16 Feb 2022, 5:55 a.m.
Panel Version: 0.10996

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
  • Victorian Clinical Genetics Services
Phenotypes
  • Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075
OMIM
610222
Clinvar variants
Variants in RIN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rin2 has been classified as Green List (High Evidence).

16 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RIN2 were changed from to Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075

16 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RIN2 were set to

16 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RIN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RIN2 was added gene: RIN2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RIN2 was set to Unknown