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| Intellectual disability syndromic and non-syndromic v1.88 | MACROD2 | Zornitza Stark Phenotypes for gene: MACROD2 were changed from Syndromic disease, MONDO:0002254, MACROD2-related to Syndromic disease, MONDO:0002254, MACROD2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.88 | MACROD2 | Zornitza Stark Phenotypes for gene: MACROD2 were changed from no OMIM number yet to Syndromic disease, MONDO:0002254, MACROD2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1538 | MACROD2 | Zornitza Stark Marked gene: MACROD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1538 | MACROD2 | Zornitza Stark Gene: macrod2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1340 | MACROD2 |
Chirag Patel 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 Added comment: 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 |
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