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  2. Monogenic Diabetes
  3. ZBTB20
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Monogenic Diabetes

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

1 review

Hali Van Niel (University of Melbourne)

Green List (high evidence)

>40 patients with gene change and primrose syndrome
Primrose syndrome associated with altered glucose metabolism and diabetes mellitus
32266967: review of clinical features for 42 ZBTB20 primrose patients found 8 with diabetes mellitus (2 in childhood, 6 in adulthood)
Created: 21 May 2024, 2:22 a.m. | Last Modified: 21 May 2024, 2:22 a.m.
Panel Version: 0.121

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primrose syndrome MONDO:0009798

Publications

Created: 21 May 2024, 2:22 a.m.
Last Modified: 21 May 2024, 2:22 a.m.
Panel version: 0.121

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Primrose syndrome MONDO:0009798
  • Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications)
  • Primrose syndrome, 259050
OMIM
606025
Clinvar variants
Variants in ZBTB20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2024, 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).

21 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZBTB20 were changed from Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications); Primrose syndrome, 259050 to Primrose syndrome MONDO:0009798; Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications); Primrose syndrome, 259050

21 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZBTB20 were set to 20644156; 25017102

17 Jan 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZBTB20 was added gene: ZBTB20 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZBTB20 were set to 20644156; 25017102 Phenotypes for gene: ZBTB20 were set to Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications); Primrose syndrome, 259050