Severe microcephaly
Gene: UFC1
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
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 literatureCreated: 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 29868776Created: 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 listCreated: 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
Gene: ufc1 has been classified as Green List (High Evidence).
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