COPB2

coatomer protein complex subunit beta 2
OMIM: 606990, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green COPB2 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Microcephaly 19, primary, autosomal recessive, MIM# 617800 Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884
Amber COPB2 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Microcephaly 19, primary, autosomal recessive, MIM# 617800
Green COPB2 in Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders Version 0.114	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884
Green COPB2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884
Red COPB2 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Microcephaly 19, primary, autosomal recessive, MIM# 617800
Green COPB2 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884