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Callosome
Gene: EMX2

EMX2 (empty spiracles homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000170370
EnsemblGeneIds (GRCh37): ENSG00000170370
OMIM: 600035, Gene2Phenotype
EMX2 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Approximately 10 individuals reported in 1995-97 with variants in this gene and schizencephaly rather than CC abnormalities. In addition, note association with schizencephaly itself has been disputed in subsequent publications. Also note, only P/LP variants in ClinVar are from 1996, all others are VOUS/LB.
Created: 29 Apr 2020, 4:54 a.m. | Last Modified: 29 Apr 2020, 4:54 a.m.

Panel Version: 0.138

Phenotypes
Schizencephaly, MIM# 269160

Publications

Created: 29 Apr 2020, 4:54 a.m.
Last Modified: 29 Apr 2020, 4:54 a.m.
Panel version: 0.138

Details

Mode of Inheritance

Unknown

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Schizencephaly, MIM# 269160

OMIM

Clinvar variants

Variants in EMX2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

29 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: emx2 has been classified as Red List (Low Evidence).

29 Apr 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EMX2 were changed from to Schizencephaly, MIM# 269160

29 Apr 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EMX2 were set to 8528262; 9359037; 9153481; 9153481; 18409201

29 Apr 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EMX2 were set to

29 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: emx2 has been classified as Red List (Low Evidence).

29 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: emx2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EMX2 was added gene: EMX2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EMX2 was set to Unknown