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Polydactyly

Gene: HMGB1

Green List (high evidence)
HMGB1 (high mobility group box 1)
EnsemblGeneIds (GRCh38): ENSG00000189403
EnsemblGeneIds (GRCh37): ENSG00000189403
OMIM: 163905, Gene2Phenotype
HMGB1 is in 5 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID:36755093
4 new families with de novo protein truncating variants.

In addition with PMID 34159400,

c.556_559delGAAG;p.(Glu186Argfs*42) - 1 family
c.551_554delAGAA;p.(Lys184Argfs*44) - 4 families
Created: 2 Mar 2023, 3:27 a.m. | Last Modified: 2 Mar 2023, 3:27 a.m.
Panel Version: 0.264
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: 2 Aug 2021, 5:49 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MIM#163905

Publications

Created: 2 Aug 2021, 5:49 a.m.

Panel version: 0.264

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MIM#163905
OMIM
163905
Clinvar variants
Variants in HMGB1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

2 Mar 2023, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: HMGB1 were changed from brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MIM#163905 to brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MIM#163905

2 Mar 2023, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: HMGB1 were changed from Mirror image foot polydactyly to brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MIM#163905

2 Mar 2023, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: HMGB1 were set to 34159400

2 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: hmgb1 has been classified as Green List (High Evidence).

2 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Aug 2021, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: HMGB1 was added gene: HMGB1 was added to Polydactyly. Sources: Literature Mode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HMGB1 were set to 34159400 Phenotypes for gene: HMGB1 were set to Mirror image foot polydactyly Penetrance for gene: HMGB1 were set to unknown Review for gene: HMGB1 was set to RED