Limb disordersGene: HMGB1
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
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
Created: 7 Aug 2021, 7:27 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mirror image foot polydactyly
Gene: hmgb1 has been classified as Red List (Low Evidence).
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