TOP2B

DNA topoisomerase II beta
OMIM: 126431, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green TOP2B in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Level 2: Renal and urinary tract disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Phenotypes B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296
Amber TOP2B in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Amber Phenotypes Autosomal dominant deafness
Green TOP2B in Predominantly Antibody Deficiency Level 2: Immunological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296 Antibody deficiency Recurrent infections Facial dysmorphism Limb anomalies
Green TOP2B in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Intellectual disability (MONDO:0001071), TOP2B-related B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MIM#609296
Amber TOP2B in Deafness_Isolated Level 2: Hearing and ear disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Literature Expert Review Amber Phenotypes Autosomal dominant deafness
Amber TOP2B in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MIM#609296