Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: THG1L

Amber List (moderate evidence)

THG1L (tRNA-histidine guanylyltransferase 1 like)
EnsemblGeneIds (GRCh38): ENSG00000113272
EnsemblGeneIds (GRCh37): ENSG00000113272
THG1L is in 4 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

3 individuals from 2 unrelated families of Ashkenazi Jewish descent with compound heterozygous variants ( p.Cys51Trp and p.Val55Ala) presented with profound developmental delays, microcephaly, intractable epilepsy, and cerebellar hypoplasia.

Homozygous variants associated with ataxia phenotype.
Sources: Literature
Created: 11 Oct 2021, 5:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 28 - 618800; Epilepsy; Intellectual Disability

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 28 - 618800
  • Epilepsy
  • Intellectual Disability
Clinvar variants
Variants in THG1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: thg1l has been classified as Amber List (Moderate Evidence).

11 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: thg1l has been classified as Amber List (Moderate Evidence).

11 Oct 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: THG1L was added gene: THG1L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: THG1L were set to 33682303 Phenotypes for gene: THG1L were set to Spinocerebellar ataxia, autosomal recessive 28 - 618800; Epilepsy; Intellectual Disability Review for gene: THG1L was set to AMBER