Severe microcephalyGene: UFC1
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
Neurodevelopmental disorder with spasticity and poor growth, 618076; microcephaly
Publications for gene: UFC1 were set to 26917597
Publications for gene: UFC1 were set to
Source NHS GMS was added to UFC1.
gene: UFC1 was added gene: UFC1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: UFC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UFC1 were set to Neurodevelopmental disorder with spasticity and poor growth, 618076; microcephaly Review for gene: UFC1 was set to AMBER