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Gene: RIN2

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

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

More than 5 unrelated families reported.

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

Childhood onset.
Created: 30 Jul 2024, 7:11 a.m. | Last Modified: 30 Jul 2024, 7:11 a.m.

Panel Version: 1.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075

Publications

Created: 30 Jul 2024, 7:11 a.m.
Last Modified: 30 Jul 2024, 7:11 a.m.
Panel version: 1.65

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Mackenzie's Mission

Phenotypes

Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)

OMIM

610222

Clinvar variants

Variants in RIN2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

13 Aug 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: RIN2 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RIN2 was added gene: RIN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RIN2 were set to Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)

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