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  3. HSD3B7
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Liver Failure_Paediatric

Gene: HSD3B7

Green List (high evidence)
HSD3B7 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7)
EnsemblGeneIds (GRCh38): ENSG00000099377
EnsemblGeneIds (GRCh37): ENSG00000099377
OMIM: 607764, Gene2Phenotype
HSD3B7 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive metabolic disorder characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most individuals show spontaneous improvement by 1 year of age. However, some may have a progressive course with continued failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and some may develop chronic or fatal liver disease.

More than 10 unrelated families reported.
Sources: Expert list
Created: 5 Nov 2020, 9:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid synthesis defect, congenital, 1, MIM# 607765

Publications

Created: 5 Nov 2020, 9:25 a.m.

Panel version: 0.97

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bile acid synthesis defect, congenital, 1, MIM# 607765
OMIM
607764
Clinvar variants
Variants in HSD3B7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hsd3b7 has been classified as Green List (High Evidence).

5 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hsd3b7 has been classified as Green List (High Evidence).

5 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HSD3B7 was added gene: HSD3B7 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD3B7 were set to 12679481; 11067870 Phenotypes for gene: HSD3B7 were set to Bile acid synthesis defect, congenital, 1, MIM# 607765 Review for gene: HSD3B7 was set to GREEN