COPB2

coat protein complex I subunit beta 2
OMIM: 606990, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green COPB2 in Mendeliome Version 2.577	2 reviews	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 2.32	2 reviews	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; Endocrine disorders Version 2.9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 2.145	2 reviews	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 Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.151	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884
Red COPB2 in Fetal anomalies Version 2.81	1 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 Level 2: Screening Version 1.0	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884