Bilateral microtia

Gene: ORC4

Green List (high evidence)

ORC4 (origin recognition complex subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000115947
EnsemblGeneIds (GRCh37): ENSG00000115947
OMIM: 603056, Gene2Phenotype
ORC4 is in 10 panels

2 reviews

Jun Shen (Harvard Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#613800:Meier-Gorlin syndrome 2 [Short stature; Birth length less than 3rd percentile; Birth weight less than 3rd percentile; Failure to thrive; Intrauterine growth retardation (IUGR); Microcephaly; Dolichocephaly; Flat philtrum; Micrognathia; Mandibular hypoplasia; Microtia, bilateral; Simple ears; Small external auditory meatus; Hypoplastic nasal alae (slight); Small mouth; Respiratory problems; Tracheomalacia; Bronchomalacia; Breast hypoplasia; Feeding problems in early infancy; Gastroesophageal reflux; Hypoplastic labia majora, mild; Clitoromegaly; Delayed bone age; Slender long bones; Absent or hypoplastic patellae (in some patients); Hyperextensible joints, especially elbows and knees; Camptodactyly, distal interphalangeal, of second, third, and fourth fingers; Camptodactyly, proximal interphalangeal, of fifth fingers; High-pitched voice]

Publications

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin EPS; causes syndromic features

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 613800
OMIM
603056
Clinvar variants
Variants in ORC4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Feb 2016, Gel status: 4

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for ORC4 were set to Bilateral Microtia; 613800

4 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for ORC4 were set to 21358631

4 Feb 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for ORC4 was changed to BIALLELIC, autosomal or pseudoautosomal

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ORC4 was added to Bilateral Microtiapanel. Sources: Expert list