TOP2B

DNA topoisomerase II beta
OMIM: 126431, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green TOP2B in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Level 2: Renal and urinary tract disorders Version 0.145 Component of the following Super Panels: Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Kidneyome_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296
Green TOP2B in Mendeliome Version 1.2302	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Autosomal dominant deafness B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296 Intellectual disability
Amber TOP2B in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.210	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Autosomal dominant deafness
Green TOP2B in Predominantly Antibody Deficiency Level 2: Immunological disorders Version 1.0 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296 Antibody deficiency Recurrent infections Facial dysmorphism Limb anomalies
Amber TOP2B in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Intellectual disability
Amber TOP2B in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.67	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Phenotypes Autosomal dominant deafness
Green TOP2B in Fetal anomalies Version 1.313	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296
Amber TOP2B in BabyScreen+ newborn screening Level 2: Screening Version 1.116	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MIM#609296