ISCA-37431-Gain

1 panel

Panel	Reviews	Mode of inheritance	Details
Green ISCA-37431-Gain Region in Intellectual disability Level 2: Developmental disorders Version 9.355 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes early onset of baldness (15 years old), dental enamel hypoplasia and minor facial dysmorphism Chromosome 17q11.2 deletion syndrome, 1.4Mb DD/ID, facial dysmorphisms, and seizures

Panel

Reviews

Mode of inheritance

Details

Level 2: Developmental disorders
Version 9.355
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

Childhood onset leukodystrophy

Hypotonic infant

Paediatric disorders

review

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

early onset of baldness (15 years old), dental enamel hypoplasia and minor facial dysmorphism
Chromosome 17q11.2 deletion syndrome, 1.4Mb
DD/ID, facial dysmorphisms, and seizures