Limb disorders
Gene: ORC1Comment when marking as ready: checked by clinical teamCreated: 4 Dec 2018, 3:05 p.m.
Genomics England clinical team agree with Amber rating since Meier-Gorlin is a phenotype associated with generalised short stature and microcephaly rather than more focal limb phenotype. It is more likely to be picked up via other panels such as Primary Microcephaly - Microcephalic Dwarfism Spectrum and Unexplained skeletal dysplasia panels.Created: 4 Dec 2018, 3:05 p.m.
ORC1 is associated with Meier-Gorlin syndrome 1 in OMIM and Gene2Phenotype (confirmed).
> 3 cases of individuals with Meier-Goblin syndrome with short stature (dwarfism) are reported in Bicknell et al. (2011)(PMID: 21358633), Bicknell et al. (2011) (PMID: 21358632) and Guernsey et al. (2011) (PMID: 21358631). A variety of homozygous and compound heterozygous mutations in ORC1 were identified.Created: 6 Nov 2018, 1:58 p.m.
Genomics England clinical team notes - Limb not isolated phenotype (Meier-Gorlin), on appropriate panelsCreated: 9 Sep 2018, 5:13 p.m.
Comment on list classification: Rated Amber on advice of Genomics England clinical team.Created: 9 Sep 2018, 5:10 p.m.
Phenotypes for gene: ORC1 were changed from Meier-Gorlin syndrome 1 to Meier-Gorlin syndrome 1, OMIM:224690
Eleanor Williams: Comment on list classification
Gene: orc1 has been classified as Amber List (Moderate Evidence).
Publications for gene: ORC1 were set to
Gene: orc1 has been classified as Amber List (Moderate Evidence).
ORC1 was added to Limb disorders panel. Sources: Expert Review Green,UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list
ORC1 was created by Ellen McDonagh