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ZBTB20

zinc finger and BTB domain containing 20
OMIM: 606025, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green ZBTB20 in Hydrocephalus Level 2: Neurology Version 5.13 Latest signed off version: v5.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Primrose syndrome, OMIM:259050
Red ZBTB20 in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.69	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Phenotypes Primrose syndrome
Green ZBTB20 in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.69	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert Review Phenotypes Primrose syndrome, 259050
Green ZBTB20 in Monogenic diabetes Level 2: Endocrinology Version 3.26 Latest signed off version: v3.21 (6 May 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes diabetes mellitus (disease), MONDO:0005015
Amber ZBTB20 in Skeletal dysplasia Level 2: Musculoskeletal Version 9.31 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Primrose syndrome, OMIM:259050 Primrose syndrome, MONDO:0009798 intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Green ZBTB20 in Fetal anomalies Level 2: Fetal (including NIPD) Version 7.30 Latest signed off version: v7.0 (6 May 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Primrose syndrome, OMIM:259050
Red ZBTB20 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.12 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Primrose syndrome, OMIM:259050 craniosynostosis, MONDO:0015469
Green ZBTB20 in DDG2P Version 7.8 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMROSE SYNDROME 259050
Amber ZBTB20 in Monogenic hearing loss Level 2: Audiology Version 6.33 Latest signed off version: v6.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Primrose syndrome, OMIM:259050 Primrose syndrome, MONDO:0009798 intellectual disability-cataracts-calcified pinnae-myopathy syndrome Tags Q3_26_promote_green
Green ZBTB20 in Intellectual disability Level 2: Developmental disorders Version 10.54 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Primrose syndrome, OMIM:259050