ISCA-46303-Loss

Panel	Reviews	Mode of inheritance	Details
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Green ISCA-46303-Loss Region in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen ClinGen Phenotypes 46XY sex reversal 10, MIM# 616425 46XX sex reversal 2, MIM# 278850 Pierre-Robin sequence MONDO:0009869, SOX9-related
Green ISCA-46303-Loss Region in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.318	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen ClinGen Phenotypes Pierre Robin syndrome MIM#261800 Tags regulatory region
Green ISCA-46303-Loss Region in Common deletion and duplication syndromes Version 0.158	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen Phenotypes Campomelic dysplasia MIM#114290, Acampomelic campomelic dysplasia MIM#114290, 46XY sex reversal 10 MIM#616425, Pierre Robin syndrome MIM#261800 Tags regulatory region

3 panels