SLC12A2

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green SLC12A2 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Delpire-McNeill syndrome, MIM# 619083 Kilquist syndrome, MIM#619080 deafness, intellectual disability, dysmorphic features, absent salivation Deafness, autosomal dominant 78, MIM#619081 Congenital, severe to profound hearing loss
Green SLC12A2 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Kilquist syndrome, MIM#619080 deafness, intellectual disability, dysmorphic features, absent salivation Congenital, severe to profound hearing loss minor motor developmental delay Deafness, autosomal dominant 78, MIM# 619081
Green SLC12A2 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 Delpire-McNeill syndrome, MIM# 619083 Kilquist syndrome, MIM#619080 deafness intellectual disability dysmorphic features absent salivation ectodermal dysplasia constipation intestinal malrotation multiple congenital anomalies

3 panels