Severe microcephaly
Gene: UBE3A
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.htmlCreated: 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
Microcephaly is a key feature.
Sources: Expert listCreated: 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
Phenotypes for gene: UBE3A were changed from Angelman syndrome 105830 to Angelman syndrome, OMIM:105830
Tag for-review was removed from gene: UBE3A.
Phenotypes for gene: UBE3A were changed from Angelman syndrome MIM#105830 to Angelman syndrome 105830
Publications for gene: UBE3A were set to
Gene: ube3a has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: UBE3A.
Mode of inheritance for gene: UBE3A was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
gene: UBE3A was added gene: UBE3A was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: UBE3A was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Phenotypes for gene: UBE3A were set to Angelman syndrome MIM#105830 Review for gene: UBE3A was set to GREEN gene: UBE3A was marked as current diagnostic