Severe microcephaly

Gene: UFC1

Green List (high evidence)

PMID:29868776 - 3 families, consanguineous Saudi origin, 1 child of Swiss origin, two variants. Phenotype includes postnatal microcephaly in 7/8 individuals with UFC1 variants. 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
Neurodevelopmental disorder with spasticity and poor growth, 618076

Publications

• 29868776

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, 3:15 p.m. | Last Modified: 27 Nov 2019, 3:15 p.m.

Panel Version: 1.78

Comment on publications: review from Geoff Woods: 5 families reported in PMID 30552426 and 29868776

Created: 19 Aug 2019, 4:58 p.m. | Last Modified: 19 Aug 2019, 4:58 p.m.

Panel Version: 1.72

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene recommended to be added to the panel by Astrid Weber during the call (Geoff Woods is one of the authors). It was suggested that Geoff Woods opinion on this gene would be helpful too, in view of the presence on his publication of the UFM1 gene. 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, 3:54 p.m. | Last Modified: 29 Jul 2019, 3:55 p.m.

Panel Version: 1.60

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with spasticity and poor growth, 618076; microcephaly