Severe microcephaly

Gene: UBE3A

I don't know

Comment from NHS Genomic Medicine Service: Primary presentation is ID/DD: green on ID & other panels - not clear if severe microephaly exists in absence of these other features? Microcephaly isn't listed as a key feature in Genereviews for females, ands is only present in some males (with severe epilepsy).

Created: 10 Mar 2022, 10:52 a.m. | Last Modified: 10 Mar 2022, 10:52 a.m.

Panel Version: 2.282

After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.

Created: 10 Mar 2022, 10:52 a.m. | Last Modified: 10 Mar 2022, 10:52 a.m.

Panel Version: 2.282

Postnatal microcephaly has been reported in Angelman syndrome patients, mostly amonst those with deletions rather than UPD of 15q.

Created: 19 Oct 2020, 10:04 a.m. | Last Modified: 19 Oct 2020, 10:04 a.m.

Panel Version: 2.28

Comment on mode of inheritance: In accordance with http://igc.otago.ac.nz/home.html

Created: 19 Oct 2020, 9:57 a.m. | Last Modified: 19 Oct 2020, 9:57 a.m.

Panel Version: 2.28

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Angelman syndrome 105830

Publications

• 2012134
• 9182785
• 10861661
• 10861661

Green List (high evidence)

Microcephaly is a key feature.
Sources: Expert list

Created: 4 Sep 2020, 10:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Phenotypes
Angelman syndrome MIM#105830

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