Severe microcephaly
Gene: UFM1
PMID:28931644 - multiple affected individuals of Roma descent, founder variantPMID:29868776 - two families, Sudanese descent, severe delay, seizures, secondary progressive microcephaly. PMID:27545674 - knockdown mouse model a/w microcephaly. Two populations, relevant phenotype and supportive animal model. Unclear whether secondary microcephaly is likely to be noted after the onset of other phenotypic features e.g. delay/seizures however on balance this meets a green rating. 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
Leukodystrophy, hypomyelinating, 14, 617899
Publications
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, 3:14 p.m. | Last Modified: 27 Nov 2019, 3:14 p.m.
Panel Version: 1.77
Comment on list classification: 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 PMIDs as recommended during the call and in light of evidence as evidence to gene can be upgraded to GreenCreated: 29 Jul 2019, 3:22 p.m. | Last Modified: 29 Jul 2019, 3:22 p.m.
Panel Version: 1.57
Comment on publications: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019 : added PMIDs as recommended to support rating of gene to be GreenCreated: 29 Jul 2019, 3:20 p.m. | Last Modified: 29 Jul 2019, 3:20 p.m.
Panel Version: 1.56
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 listCreated: 29 Jul 2019, 3:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 14, 617899
Source NHS GMS was added to UFM1.
Gene: ufm1 has been classified as Green List (High Evidence).
Publications for gene: UFM1 were set to
Phenotypes for gene: UFM1 were changed from Leukodystrophy, hypomyelinating, 14, 617899 to Leukodystrophy, hypomyelinating, 14, 617899; microcephaly
gene: UFM1 was added gene: UFM1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14, 617899 Review for gene: UFM1 was set to GREEN