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Intellectual disability

Gene: EXOC7

Amber List (moderate evidence)
EXOC7 (exocyst complex component 7)
EnsemblGeneIds (GRCh38): ENSG00000182473
EnsemblGeneIds (GRCh37): ENSG00000182473
OMIM: 608163, Gene2Phenotype
EXOC7 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Though mild-severe DD is reported in all surviving patients to date (4 individuals from 2 families), additional unrelated cases required before inclusion on a diagnostic panel.

Therefore, rating Amber in anticipation of further publications (added to watchlist).
Created: 7 Sep 2020, 2:47 p.m. | Last Modified: 7 Sep 2020, 2:47 p.m.
Panel Version: 3.287
Created: 7 Sep 2020, 2:47 p.m.
Last Modified: 7 Sep 2020, 2:47 p.m.
Panel version: 3.287

Zornitza Stark (Australian Genomics)

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. They showed that EXOC7, a member of the mammalian exocyst complex, is highly expressed in developing human cortex. In addition, a zebrafish model of Exoc7 deficiency recapitulates the human disorder with increased apoptosis and decreased progenitor cells during telencephalon development, suggesting that the brain atrophy in human cases reflects neuronal degeneration. We have added to the Microcephaly and Genetic Epilepsies panels as well.
Sources: Literature
Created: 1 Jul 2020, 10:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
brain atrophy; seizures; developmental delay; microcephaly

Publications

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

Created: 1 Jul 2020, 10:01 a.m.

Panel version: 3.126

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • brain atrophy
  • seizures
  • developmental delay
  • microcephaly
Tags
watchlist
OMIM
608163
Clinvar variants
Variants in EXOC7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: exoc7 has been classified as Amber List (Moderate Evidence).

7 Sep 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: EXOC7.

1 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: EXOC7 was added gene: EXOC7 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: EXOC7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOC7 were set to 32103185 Phenotypes for gene: EXOC7 were set to brain atrophy; seizures; developmental delay; microcephaly Review for gene: EXOC7 was set to GREEN gene: EXOC7 was marked as current diagnostic