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Fetal anomalies

Gene: ZBTB20

Green List (high evidence)

ZBTB20 (zinc finger and BTB domain containing 20)
EnsemblGeneIds (GRCh38): ENSG00000181722
EnsemblGeneIds (GRCh37): ENSG00000181722
OMIM: 606025, Gene2Phenotype
ZBTB20 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported. Principal features are recognizable gestalt, macrocephaly, ID, enlarged and calcified external ears, sparse body hair, and distal muscle wasting.
Created: 16 Dec 2021, 5:29 a.m. | Last Modified: 16 Dec 2021, 5:29 a.m.
Panel Version: 0.1380

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primrose syndrome, MIM# 259050

Publications

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Fetal anomalies reported including flexion contractures, corpus callosal abnormalities
Created: 16 Dec 2021, 4:26 a.m. | Last Modified: 16 Dec 2021, 4:26 a.m.
Panel Version: 0.1372

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primrose syndrome OMIM # 259050

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Primrose syndrome, MIM# 259050
OMIM
606025
Clinvar variants
Variants in ZBTB20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zbtb20 has been classified as Green List (High Evidence).

16 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZBTB20 were changed from PRIMROSE SYNDROME to Primrose syndrome, MIM# 259050

16 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZBTB20 were set to

16 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ZBTB20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZBTB20 was added gene: ZBTB20 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZBTB20 were set to PRIMROSE SYNDROME