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Intellectual disability syndromic and non-syndromic

Gene: MACROD2

Red List (low evidence)

MACROD2 (MACRO domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000172264
EnsemblGeneIds (GRCh37): ENSG00000172264
OMIM: 611567, Gene2Phenotype
MACROD2 is in 2 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

1 family with a few affected with microcephaly, ID, dysmorphic features, and polydactyly. Deletion of chromosome 20p12.1 involving the MACROD2 gene was found in several members of the family. qRT-PCR showed higher levels of a MACROD2 mRNA isoform in the individuals carrying the deletion.
Sources: Literature
Created: 11 Dec 2019, 11:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
no OMIM number yet

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • no OMIM number yet
OMIM
611567
Clinvar variants
Variants in MACROD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: macrod2 has been classified as Red List (Low Evidence).

11 Dec 2019, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: MACROD2 was added gene: MACROD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: MACROD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MACROD2 were set to PMID: 31055587 Phenotypes for gene: MACROD2 were set to no OMIM number yet Review for gene: MACROD2 was set to RED