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Skeletal dysplasia

Gene: CHST11

Amber List (moderate evidence)

CHST11 (carbohydrate sulfotransferase 11)
EnsemblGeneIds (GRCh38): ENSG00000171310
EnsemblGeneIds (GRCh37): ENSG00000171310
OMIM: 610128, Gene2Phenotype
CHST11 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families reported, note one had a homozygous deletion.
Sources: Expert list
Created: 28 Apr 2021, 5:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM# 618167

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM# 618167
Tags
SV/CNV
OMIM
610128
Clinvar variants
Variants in CHST11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Apr 2021, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: CHST11.

28 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chst11 has been classified as Amber List (Moderate Evidence).

28 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chst11 has been classified as Amber List (Moderate Evidence).

28 Apr 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHST11 was added gene: CHST11 was added to Skeletal dysplasia. Sources: Expert list Mode of inheritance for gene: CHST11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST11 were set to 26436107; 29514872 Phenotypes for gene: CHST11 were set to Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM# 618167 Review for gene: CHST11 was set to AMBER