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  3. OTX2
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Mandibulofacial Acrofacial dysostosis

Gene: OTX2

Amber List (moderate 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)

I don't know

Three families reported with variants in OTX2 and otocyephaly-dysgnathia. Note variants were inherited in two of the families: in one family, from mother with microphthalmia (recognised OTX2 phenotype) and the other from an unaffected father. Lamb animal model reported.
Sources: Expert Review
Created: 8 Aug 2021, 5:13 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Otocephaly-dysgnathia complex

Publications

Created: 8 Aug 2021, 5:13 a.m.

Panel version: 0.79

History Filter Activity

8 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: otx2 has been classified as Amber List (Moderate Evidence).

8 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: otx2 has been classified as Amber List (Moderate Evidence).

8 Aug 2021, Gel status: 1

Created, Added New Source, 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 Mandibulofacial Acrofacial dysostosis. Sources: Expert Review Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OTX2 were set to 24167467; 25589041; 31969185 Phenotypes for gene: OTX2 were set to Otocephaly-dysgnathia complex Review for gene: OTX2 was set to AMBER