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Fetal anomalies

Gene: ZBTB42

Amber List (moderate evidence)

ZBTB42 (zinc finger and BTB domain containing 42)
EnsemblGeneIds (GRCh38): ENSG00000179627
EnsemblGeneIds (GRCh37): ENSG00000179627
OMIM: 613915, Gene2Phenotype
ZBTB42 is in 4 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

Homozygous missense variant reported in a family with three stillbirths and a phenotype consistent with LCCS. Supportive zebrafish model.
Sources: Expert list, Literature
Created: 22 Nov 2021, 5:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Lethal congenital contracture syndrome 6- #616248

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert list
Phenotypes
  • Lethal congenital contracture syndrome 6- #616248
OMIM
613915
Clinvar variants
Variants in ZBTB42
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zbtb42 has been classified as Amber List (Moderate Evidence).

22 Nov 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZBTB42 were changed from ?Lethal congenital contracture syndrome 6- #616248 to Lethal congenital contracture syndrome 6- #616248

22 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zbtb42 has been classified as Amber List (Moderate Evidence).

22 Nov 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: ZBTB42 was added gene: ZBTB42 was added to Fetal anomalies. Sources: Expert list,Literature 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- #616248 Review for gene: ZBTB42 was set to AMBER