COPB1

Panel	Reviews	Mode of inheritance	Details
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Amber COPB1 in Cataract Level 2: Ophthalmological disorders Version 0.366	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Baralle-Macken syndrome, MIM# 619255 Severe intellectual disability variable microcephaly cataracts
Amber COPB1 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Baralle-Macken syndrome, MIM# 619255 Severe intellectual disability variable microcephaly cataracts
Red COPB1 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Baralle-Macken syndrome, MIM# 619255 Severe intellectual disability variable microcephaly cataracts
Amber COPB1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Baralle-Macken syndrome, MIM# 619255 Severe intellectual disability variable microcephaly cataracts
Red COPB1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Baralle-Macken syndrome, MIM# 619255 Severe intellectual disability variable microcephaly cataracts

5 panels