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Intellectual disability

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 5:50 p.m. | Last Modified: 30 Jan 2023, 5:50 p.m.
Panel Version: 4.53
Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update on ID and microcephaly gene panel based on >3 unrelated cases presenting with relevant phenotype due to heterozygous variant in the HMGB1 gene (PMID: 34164801)
Created: 1 Aug 2022, 10:59 a.m. | Last Modified: 1 Aug 2022, 10:59 a.m.
Panel Version: 3.1639
Created: 1 Aug 2022, 10:59 a.m.
Last Modified: 1 Aug 2022, 10:59 a.m.
Panel version: 4.53

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 30 Nov 2021, 12:54 p.m.
Last Modified: 30 Nov 2021, 12:54 p.m.
Panel version: 3.1475

Zornitza Stark (Australian Genomics)

Green List (high evidence)

13q12.3 microdeletion syndrome is a rare cause of syndromic ID. Previous studies identified four genes within the ~300 Kb minimal critical region including two candidate protein coding genes: KATNAL1 and HMGB1.

Uguen et al. (2021) report 6 patients with LOF variants involving HMGB1 with features similar to 13q12.3 microdeletion syndrome (i.e. developmental delay, language delay, microcephaly, obesity and dysmorphic features). In silico analyses suggest that HMGB1 is likely to be intolerant to LOF, and previous in vitro data are in line with the role of HMGB1 in neurodevelopment. They suggest that haploinsufficiency of the HMGB1 gene may play a critical role in the pathogenesis of the 13q12.3 microdeletion syndrome.
Sources: Literature
Created: 9 Oct 2021, 7:53 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay and microcephaly

Publications

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

Created: 9 Oct 2021, 7:53 a.m.

Panel version: 3.1332

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Developmental delay and microcephaly
Tags
gene-checked
OMIM
163905
Clinvar variants
Variants in HMGB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: HMGB1.

30 Jan 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating was removed from gene: HMGB1.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to HMGB1. Source Expert Review Green was added to HMGB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: hmgb1 has been classified as Amber List (Moderate Evidence).

1 Aug 2022, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating tag was added to gene: HMGB1.

9 Oct 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 Intellectual disability. Sources: Literature Mode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HMGB1 were set to 34164801 Phenotypes for gene: HMGB1 were set to Developmental delay and microcephaly Review for gene: HMGB1 was set to GREEN gene: HMGB1 was marked as current diagnostic