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Fetal anomalies

Gene: EXOC7

Green List (high evidence)

EXOC7 (exocyst complex component 7)
EnsemblGeneIds (GRCh38): ENSG00000182473
EnsemblGeneIds (GRCh37): ENSG00000182473
OMIM: 608163, Gene2Phenotype
EXOC7 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Antenatal presentations reported.
Created: 28 Feb 2022, 7 a.m. | Last Modified: 28 Feb 2022, 7 a.m.
Panel Version: 0.4322

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with seizures and brain atrophy MIM#619072

Publications

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

4 families with 8 affected individuals with brain atrophy, seizures, and developmental delay, and in more severe cases microcephaly and infantile death. Four novel homozygous or comp.heterozygous variants found in EXOC7, which segregated with disease in the families.
Sources: Literature
Created: 28 Feb 2022, 3:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with seizures and brain atrophy MIM#619072

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with seizures and brain atrophy MIM#619072
OMIM
608163
Clinvar variants
Variants in EXOC7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: exoc7 has been classified as Green List (High Evidence).

28 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EXOC7 were set to

28 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: exoc7 has been classified as Green List (High Evidence).

28 Feb 2022, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: EXOC7 was added gene: EXOC7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: EXOC7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXOC7 were set to Neurodevelopmental disorder with seizures and brain atrophy MIM#619072 Review for gene: EXOC7 was set to GREEN gene: EXOC7 was marked as current diagnostic