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  3. HSPA1L
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Inflammatory bowel disease

Gene: HSPA1L

Amber List (moderate evidence)
HSPA1L (heat shock protein family A (Hsp70) member 1 like)
EnsemblGeneIds (GRCh38): ENSG00000204390
EnsemblGeneIds (GRCh37): ENSG00000204390
OMIM: 140559, Gene2Phenotype
HSPA1L is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

PMID:28126021 reported the identification of a heterozygous de novo variant (p.Ser277Leu) in HSPA1L in a patient with inflammatory bowel disease. In addition, five additional rare HSPA1L variants (p.Gly77Ser, p.Leu172del, p.Thr267Ile, p.Ala268Thr, p.Glu558Asp) were identified in six patients from a cohort of 136 IBD patients with WES data. Functional studies showed that all six HSPA1L variant proteins showed decreased chaperone activity in vitro. Moreover, three variants demonstrated dominant negative effects on HSPA1L and HSPA1A protein activity.

However, the variants identified are present at relatively high frequencies in gnomad V4, in particular p.Thr267Ile is present in 281 individuals, and the p.Ala268Thr is present in 4,753 individuals.
Sources: Literature
Created: 15 Feb 2024, 7:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
inflammatory bowel disease, MONDO:0005265, HSPA1L-related

Publications

Created: 15 Feb 2024, 7:35 a.m.

Panel version: 0.113

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • inflammatory bowel disease, MONDO:0005265, HSPA1L-related
OMIM
140559
Clinvar variants
Variants in HSPA1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Feb 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hspa1l has been classified as Amber List (Moderate Evidence).

15 Feb 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hspa1l has been classified as Amber List (Moderate Evidence).

15 Feb 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HSPA1L was added gene: HSPA1L was added to Inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: HSPA1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HSPA1L were set to 28126021 Phenotypes for gene: HSPA1L were set to inflammatory bowel disease, MONDO:0005265, HSPA1L-related Review for gene: HSPA1L was set to AMBER