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Prepair 1000+

Gene: GORAB

Green List (high evidence)
GORAB (golgin, RAB6 interacting)
EnsemblGeneIds (GRCh38): ENSG00000120370
EnsemblGeneIds (GRCh37): ENSG00000120370
OMIM: 607983, Gene2Phenotype
GORAB is in 12 panels

1 review

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

From OMIM; Geroderma osteodysplasticum (GO) is an autosomal recessive disorder characterized by skin wrinkling limited to the dorsa of hands and feet and to the abdomen, bowed long bones, and osteopenia with frequent fractures. There is a distinctive facial appearance with droopy skin at the cheeks, maxillary hypoplasia, and large ears. Adult patients appear prematurely aged (summary by Rajab et al., 2008). As the name indicates, the features of this disorder include changes in the skin suggesting precocious aging and osseous changes including osteoporosis and multiple lines like growth rings of trees. Gene previous symbol is SCYL1BP1, HGNC 25676.
Created: 10 Jan 2025, 6:45 a.m. | Last Modified: 10 Jan 2025, 6:45 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Geroderma osteodysplasticum, MIM#231070; MONDO:0009271

Publications

Created: 10 Jan 2025, 6:45 a.m.
Last Modified: 10 Jan 2025, 6:45 a.m.
Panel version: 1.992

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum, 231070 (3) to Geroderma osteodysplasticum, MIM#231070; MONDO:0009271

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GORAB were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Geroderma osteodysplasticum, 231070 (3) for gene: GORAB

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: GORAB was added gene: GORAB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum, 231070 (3)