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Intellectual disability syndromic and non-syndromic

Gene: MEGF8

Green List (high evidence)

MEGF8 (multiple EGF like domains 8)
EnsemblGeneIds (GRCh38): ENSG00000105429
EnsemblGeneIds (GRCh37): ENSG00000105429
OMIM: 604267, Gene2Phenotype
MEGF8 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

ID is described in this condition.
Sources: Expert list
Created: 6 Dec 2019, 4:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carpenter syndrome 2; OMIM #614976

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Developmental delay has been reported in this condition.
Created: 5 Dec 2019, 12:48 a.m. | Last Modified: 5 Dec 2019, 12:48 a.m.
Panel Version: 0.415

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carpenter syndrome 2; OMIM #614976

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Carpenter syndrome 2
  • OMIM #614976
OMIM
604267
Clinvar variants
Variants in MEGF8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: megf8 has been classified as Green List (High Evidence).

10 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MEGF8 were set to

5 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from MEGF8. Source Expert list was added to MEGF8. Mode of inheritance for gene MEGF8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MEGF8 were changed from to Carpenter syndrome 2; OMIM #614976

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MEGF8 was added gene: MEGF8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MEGF8 was set to Unknown