Severe microcephaly

Gene: UFM1

Green List (high evidence)

UFM1 (ubiquitin fold modifier 1)
EnsemblGeneIds (GRCh38): ENSG00000120686
EnsemblGeneIds (GRCh37): ENSG00000120686
OMIM: 610553, Gene2Phenotype
UFM1 is in 5 panels

2 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

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

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 Green
Created: 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 Green
Created: 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 list
Created: 29 Jul 2019, 3:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 14, 617899

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 14, 617899
  • microcephaly
OMIM
610553
Clinvar variants
Variants in UFM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to UFM1.

29 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ufm1 has been classified as Green List (High Evidence).

29 Jul 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: UFM1 were set to

29 Jul 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: UFM1 were changed from Leukodystrophy, hypomyelinating, 14, 617899 to Leukodystrophy, hypomyelinating, 14, 617899; microcephaly

29 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

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