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STRs in panel
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Limb disorders

Gene: HMGB1

Red List (low evidence)

HMGB1 (high mobility group box 1)
EnsemblGeneIds (GRCh38): ENSG00000189403
EnsemblGeneIds (GRCh37): ENSG00000189403
OMIM: 163905, Gene2Phenotype
HMGB1 is in 2 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Promoting from grey to red based on 1 case, plus some supportive animal model data.
Created: 10 Oct 2021, 1:08 p.m. | Last Modified: 10 Oct 2021, 1:08 p.m.
Panel Version: 2.58

Zornitza Stark (Australian Genomics)

Red List (low evidence)

1x de novo fs in a proband with severe mirror image foot polydactyly. No functional studies done but cited Itou 2011 - mouse and zebrafish studies demonstrated the role of HMGB1 in regulating digit number during embryonic limb development
Sources: Literature
Created: 7 Aug 2021, 7:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mirror image foot polydactyly

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Mirror image foot polydactyly
OMIM
163905
Clinvar variants
Variants in HMGB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: hmgb1 has been classified as Red List (Low Evidence).

7 Aug 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: HMGB1 was added gene: HMGB1 was added to Limb disorders. Sources: Literature Mode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HMGB1 were set to 34159400 Phenotypes for gene: HMGB1 were set to Mirror image foot polydactyly Review for gene: HMGB1 was set to RED