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Skeletal dysplasia v9.26 ZBTB20 Ida Ertmanska changed review comment from: Comment on list classification: As skeletal dysplasia is a relatively rare feature in Primrose syndrome patients (5 of more than 50 cases reported to have skeletal dysplasia), this gene should remain Red on this panel. R27 Paediatric disorders is a more suitable Clinical Indication for this multisystemic disorder.; to: Comment on list classification: As skeletal dysplasia is a relatively rare feature in Primrose syndrome patients (5 of more than 50 cases reported to have skeletal dysplasia), this gene should remain Red on this panel. R27 Paediatric disorders is a more suitable Clinical Indication for this multisystemic disorder.
Skeletal dysplasia v9.26 ZBTB20 Ida Ertmanska changed review comment from: Comment on list classification: As skeletal dysplasia is a relatively rare feature in Primrose syndrome patients (5 of more than 50 cases reported to have skeletal dysplasia), this gene should remain Red on this panel. R27 Paediatric disorders is a more suitable Clinical Indication for this multisystemic disorder.; to: Comment on list classification: As skeletal dysplasia is a relatively rare feature in Primrose syndrome patients (5 of more than 50 cases reported to have skeletal dysplasia), this gene should remain Red on this panel. R27 Paediatric disorders is a more suitable Clinical Indication for this multisystemic disorder.
Skeletal dysplasia v9.26 ZBTB20 Ida Ertmanska edited their review of gene: ZBTB20: Changed rating: RED
Skeletal dysplasia v9.26 ZBTB20 Ida Ertmanska Classified gene: ZBTB20 as Red List (low evidence)
Skeletal dysplasia v9.26 ZBTB20 Ida Ertmanska Gene: zbtb20 has been classified as Red List (Low Evidence).
Skeletal dysplasia v9.25 ZBTB20 Ida Ertmanska Classified gene: ZBTB20 as Amber List (moderate evidence)
Skeletal dysplasia v9.25 ZBTB20 Ida Ertmanska Added comment: Comment on list classification: As skeletal dysplasia is a relatively rare feature in Primrose syndrome patients (5 of more than 50 cases reported to have skeletal dysplasia), this gene should remain Red on this panel. R27 Paediatric disorders is a more suitable Clinical Indication for this multisystemic disorder.
Skeletal dysplasia v9.25 ZBTB20 Ida Ertmanska Gene: zbtb20 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v9.24 ZBTB20 Ida Ertmanska Publications for gene: ZBTB20 were set to 32473227
Skeletal dysplasia v9.23 ZBTB20 Ida Ertmanska changed review comment from: PMID: 31321892 Ferreira et al., 2019
P1 - male proband of European ancestry with Primrose syndrome: macrocephaly, hypoplasia of CC, mild kyphosis and multiple wormian bones, GDD. Trio WES detected a de novo ZBTB20 c.1822T>C, p.Cys608Arg variant.
P2 - male patient, Brazilian, with Primrose syndrome: GDD, strabismus, distal muscle wasting, ASD, hearing impairment, brain and ear calcifications seen on CT & MRI, dysmorphic features. Targeted ZBTB20 seq detected a c.1873A>G, p.Met625Val variant - not detected in the mother of siblings, father's DNA unavailable. No skeletal abnormalities apart from lumbar hyperlordosis.

PMID: 32473227 Arora et al., 2020
Report of 5 probands (all male, aged 2-23 yrs at time of report) with Primrose syndrome, one each from India, Japan, Europe, Lebanon and Africa. 4 families were noted to be non-consanguineous and 1 unspecified.
All 5 patients carried de novo heterozygous missense variants in ZBTB20: p.Thr627Ala, p.Cys639Tyr, p.His600Gln, p.Leu621Phe, & p.Cys639Tyr.
Phenotypic spectrum: learning disability (5/5), facial dysmorphism (5/5), macrocephaly (4/5), hearing loss (3/5), corpus callosum abnormality on MRI (2/5). In addition, all 5 probands had skeletal features: Wormian bones (5/5), Epiphyseal abnormalities (5/5), notably slender bones (5/5), spine involvement (3/5).
Sources: Literature; to: PMID: 31321892 Ferreira et al., 2019
P1 - male proband of European ancestry with Primrose syndrome: macrocephaly, hypoplasia of CC, mild kyphosis and multiple wormian bones, GDD. Trio WES detected a de novo ZBTB20 c.1822T>C, p.Cys608Arg variant.
P2 - male patient, Brazilian, with Primrose syndrome: GDD, strabismus, distal muscle wasting, ASD, hearing impairment, brain and ear calcifications seen on CT & MRI, dysmorphic features. Targeted ZBTB20 seq detected a c.1873A>G, p.Met625Val variant - not detected in the mother of siblings, father's DNA unavailable. No skeletal abnormalities apart from lumbar hyperlordosis.

PMID: 32473227 Arora et al., 2020
Report of 5 probands (all male, aged 2-23 yrs at time of report) with Primrose syndrome, one each from India, Japan, Europe, Lebanon and Africa. 4 families were noted to be non-consanguineous and 1 unspecified.
All 5 patients carried de novo heterozygous missense variants in ZBTB20: p.Thr627Ala, p.Cys639Tyr, p.His600Gln, p.Leu621Phe, & p.Cys639Tyr.
Phenotypic spectrum: learning disability (5/5), facial dysmorphism (5/5), macrocephaly (4/5), hearing loss (3/5), corpus callosum abnormality on MRI (2/5). In addition, all 5 probands had skeletal features: Wormian bones (5/5), Epiphyseal abnormalities (5/5), notably slender bones (5/5), spine involvement (3/5).

https://www.ncbi.nlm.nih.gov/books/NBK570205/ - Primrose syndrome GeneReviews entry mentions 52 reported individuals. Skeletal abnormalities are not noted to be the main characteristic features. Some patients present with scoliosis and skull specific abormalities e.g., wormian bones, without wider skeletal involvement. The primary features consistent in most cases are: intellectual disability (100%), hearing loss (83%), dysmorphic facial features (>70%), hypotonia (76%), and autism (70%), with many other less specific features.

ZBTB20 is associated with AD Primrose syndrome, OMIM:259050 (OMIM accessed 7th July 2026).

Sources: Literature
Skeletal dysplasia v9.23 ZBTB20 Ida Ertmanska edited their review of gene: ZBTB20: Changed publications to: 31321892, 32473227
Skeletal dysplasia v9.23 ZBTB20 Ida Ertmanska gene: ZBTB20 was added
gene: ZBTB20 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZBTB20 were set to 32473227
Phenotypes for gene: ZBTB20 were set to Primrose syndrome, OMIM:259050; Primrose syndrome, MONDO:0009798; intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Review for gene: ZBTB20 was set to AMBER
Added comment: PMID: 31321892 Ferreira et al., 2019
P1 - male proband of European ancestry with Primrose syndrome: macrocephaly, hypoplasia of CC, mild kyphosis and multiple wormian bones, GDD. Trio WES detected a de novo ZBTB20 c.1822T>C, p.Cys608Arg variant.
P2 - male patient, Brazilian, with Primrose syndrome: GDD, strabismus, distal muscle wasting, ASD, hearing impairment, brain and ear calcifications seen on CT & MRI, dysmorphic features. Targeted ZBTB20 seq detected a c.1873A>G, p.Met625Val variant - not detected in the mother of siblings, father's DNA unavailable. No skeletal abnormalities apart from lumbar hyperlordosis.

PMID: 32473227 Arora et al., 2020
Report of 5 probands (all male, aged 2-23 yrs at time of report) with Primrose syndrome, one each from India, Japan, Europe, Lebanon and Africa. 4 families were noted to be non-consanguineous and 1 unspecified.
All 5 patients carried de novo heterozygous missense variants in ZBTB20: p.Thr627Ala, p.Cys639Tyr, p.His600Gln, p.Leu621Phe, & p.Cys639Tyr.
Phenotypic spectrum: learning disability (5/5), facial dysmorphism (5/5), macrocephaly (4/5), hearing loss (3/5), corpus callosum abnormality on MRI (2/5). In addition, all 5 probands had skeletal features: Wormian bones (5/5), Epiphyseal abnormalities (5/5), notably slender bones (5/5), spine involvement (3/5).
Sources: Literature