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Intellectual disability syndromic and non-syndromic

Gene: HMGCL

Green List (high evidence)

HMGCL (3-hydroxymethyl-3-methylglutaryl-CoA lyase)
EnsemblGeneIds (GRCh38): ENSG00000117305
EnsemblGeneIds (GRCh37): ENSG00000117305
OMIM: 613898, Gene2Phenotype
HMGCL is in 13 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

ID/DD appears to be a feature of the condition however is only present in some cases not all.

36771238 - patient presenting with DD but no metabolic phenotypes and has been labelled as an atypical presentation of HMGCL deficiency

35646072 - reports 6 individuals from Saudi Arabian presenting with DD and a clinical phenotype of HMGCL deficiency. Unclear if any of the 6 are related or not.
Created: 18 Sep 2024, 4:20 a.m. | Last Modified: 18 Sep 2024, 4:20 a.m.
Panel Version: 0.6222

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-hydroxy-3-methylglutaric aciduria MONDO:0009520

Publications

Details

History Filter Activity

14 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HMGCL were changed from to 3-hydroxy-3-methylglutaric aciduria MONDO:0009520

14 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HMGCL were set to

14 Nov 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HMGCL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

26 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: HMGCL.

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HMGCL was added gene: HMGCL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HMGCL was set to Unknown