GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ORC1

ORC1 (origin recognition complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000085840
EnsemblGeneIds (GRCh37): ENSG00000085840
OMIM: 601902, Gene2Phenotype
ORC1 is in 9 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Patellar dysostoses gp of SD - >3 cases, de novo truncating mutations in exon 18. SBBYSS has overlapping clinical features - also mostly exon 18 truncations.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome 1 224690

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Meier-Gorlin syndrome 1 224690

OMIM

601902

Clinvar variants

Variants in ORC1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: ORC1 was added gene: ORC1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ORC1 were set to Meier-Gorlin syndrome 1 224690

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: ORC1