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Fetal anomalies

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

Chirag Patel (Genetic Health Queensland)

I don't know

Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum. Two unrelated families reported, note one had a homozygous deletion.
Created: 24 Feb 2022, 5:19 a.m. | Last Modified: 24 Feb 2022, 5:19 a.m.
Panel Version: 0.4171

Details

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

History Filter Activity

24 Feb 2022, 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).

24 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

24 Feb 2022, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

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