Severe microcephaly

Gene: UBA5

Green List (high evidence)

Sufficient cases, phenotype includes postnatal microcephaly, often presenting prior to this with encephalopathy, delay, neurological compromise (including spasticity and dystonia). Knockdown mouse noted to have microcephaly. Unclear on severity of microcephaly and whether the other features are more likely to present first, however it is a consistent aspect of the phenotype and there are sufficient cases. Provisionally rated Green.

Created: 10 Oct 2019, 10:30 a.m. | Last Modified: 10 Oct 2019, 10:30 a.m.

Panel Version: 1.74

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 44, 617132

Green List (high evidence)

Comment on list classification: Gene rated Green- this rating was suggested in an email to the test group on 6th November after review by Genomics England clinical team review, and indicating if there were no further comments on the rating the gene would rated as per provisional suggestion as per recommended on the current evidence in the literature

Created: 27 Nov 2019, 3:14 p.m. | Last Modified: 27 Nov 2019, 3:14 p.m.

Panel Version: 1.77

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green.
Sources: Expert list

Created: 29 Jul 2019, 3:13 p.m. | Last Modified: 29 Jul 2019, 3:30 p.m.

Panel Version: 1.58

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 44, 617132