1. Panels
  2. Monogenic short stature
  3. ORC1
STRs in panel
Prev Next

Monogenic short stature

Gene: ORC1

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: Previous phenotypes: microtia, beaked nose, patellar aplasia/hypoplasia, mammary hypoplasia, micrognathia
Created: 26 Mar 2024, 4:37 p.m. | Last Modified: 26 Mar 2024, 4:37 p.m.
Panel Version: 3.73
Created: 26 Mar 2024, 4:37 p.m.
Last Modified: 26 Mar 2024, 4:37 p.m.
Copied from panel: Growth failure in early childhood v3.81

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Meier-Gorlin syndrome is distinguishable due to marked microcephaly and therefore would be investigated under severe microcephaly R88. Therefore demoted gene from Green to Red.
Created: 30 May 2019, 9:49 a.m.
Created: 30 May 2019, 9:49 a.m.

Copied from panel: Growth failure in early childhood v3.81

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Meier-Gorlin.
Created: 14 May 2019, 1:25 p.m.

Phenotypes
Meier-Gorlin

Created: 14 May 2019, 1:25 p.m.

Copied from panel: Growth failure in early childhood v3.81

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Meier-Gorlin syndrome 1, OMIM:224690
OMIM
601902
Clinvar variants
Variants in ORC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: ORC1 was added gene: ORC1 was added to Monogenic short stature. Sources: Expert list,Expert Review Red Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ORC1 were set to 21358632 Phenotypes for gene: ORC1 were set to Meier-Gorlin syndrome 1, OMIM:224690