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BabyScreen+ newborn screening

Gene: OTX2

Green List (high evidence)

OTX2 (orthodenticle homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000165588
EnsemblGeneIds (GRCh37): ENSG00000165588
OMIM: 600037, Gene2Phenotype
OTX2 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene have been associated with pituitary hormone deficiency with or without microphthalmia, including of TSH.

Congenital onset.

Microphthalmia would present clinically in the newborn period. Infants with TSH deficiency should be detected by standard NBS.

Treatment: thyroxine and other hormone replacements.
Sources: Expert list
Created: 27 Mar 2023, 3:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pituitary hormone deficiency, combined, 6, MIM# 613986

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pituitary hormone deficiency, combined, 6, MIM# 613986
Tags
treatable endocrine
OMIM
600037
Clinvar variants
Variants in OTX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: otx2 has been classified as Green List (High Evidence).

27 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: otx2 has been classified as Green List (High Evidence).

27 Mar 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OTX2 was added gene: OTX2 was added to Baby Screen+ newborn screening. Sources: Expert list treatable, endocrine tags were added to gene: OTX2. Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OTX2 were set to 18728160; 35320640; 33950863 Phenotypes for gene: OTX2 were set to Pituitary hormone deficiency, combined, 6, MIM# 613986 Review for gene: OTX2 was set to GREEN