Arthrogryposis
Gene: ZBTB42EnsemblGeneIds (GRCh38): ENSG00000179627
EnsemblGeneIds (GRCh37): ENSG00000179627
OMIM: 613915, Gene2Phenotype
ZBTB42 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Homozygous missense variant reported in a family with three stillbirths and a phenotype consistent with LCCS. Supportive zebrafish model.
Sources: Expert ReviewCreated: 14 Jun 2021, 7:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lethal congenital contracture syndrome 6, MIM# 616248
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert Review
- Phenotypes
-
- Lethal congenital contracture syndrome 6, MIM# 616248
- OMIM
- 613915
- Clinvar variants
- Variants in ZBTB42
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zbtb42 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zbtb42 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ZBTB42 was added gene: ZBTB42 was added to Arthrogryposis. Sources: Expert Review Mode of inheritance for gene: ZBTB42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZBTB42 were set to 25055871 Phenotypes for gene: ZBTB42 were set to Lethal congenital contracture syndrome 6, MIM# 616248 Review for gene: ZBTB42 was set to AMBER