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  3. UFM1
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White matter disorders and cerebral calcification - narrow panel

Gene: UFM1

Green List (high evidence)
UFM1 (ubiquitin fold modifier 1)
EnsemblGeneIds (GRCh38): ENSG00000120686
EnsemblGeneIds (GRCh37): ENSG00000120686
OMIM: 610553, Gene2Phenotype
UFM1 is in 6 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Created: 30 Jan 2023, 4:26 p.m.
Last Modified: 30 Jan 2023, 4:26 p.m.
Panel version: 2.9

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be made Green at the next review.
Created: 6 May 2021, 3:28 p.m. | Last Modified: 6 May 2021, 3:28 p.m.
Panel Version: 1.66
Created: 6 May 2021, 3:28 p.m.
Last Modified: 6 May 2021, 3:28 p.m.
Panel version: 1.66

Zornitza Stark (Australian Genomics)

Green List (high evidence)

16 children from Roma descent reported initially, all had homozygous 3bp deletion in the promoter of UFM1 (founder). Another 4 individuals from 2 Sudanese families reported subsequently, with missense variant in gene.
Sources: Expert list
Created: 16 Sep 2020, 5:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 14, MIM# 617899

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Sep 2020, 5:39 a.m.

Panel version: 1.14

Details

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

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating was removed from gene: UFM1.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to UFM1. Source Expert Review Green was added to UFM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

6 May 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: UFM1.

6 May 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ufm1 has been classified as Amber List (Moderate Evidence).

6 May 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: UFM1 were changed from Leukodystrophy, hypomyelinating, 14, MIM# 617899 to Leukodystrophy, hypomyelinating, 14, OMIM:617899

16 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: UFM1 was added gene: UFM1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UFM1 were set to 28931644; 29868776 Phenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14, MIM# 617899 Review for gene: UFM1 was set to GREEN gene: UFM1 was marked as current diagnostic