ISCA-37433-Gain

1 panel

Panel	Reviews	Mode of inheritance	Details
Green ISCA-37433-Gain Region in Intellectual disability Level 2: Developmental disorders Version 9.285 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 608363 Chromosome 22q11.2 microduplication syndrome dysmorphic facial features, cognitive deficits, velopharyngeal insufficiency, congenital heart defects and immunologic derangement delayed psychomotor development, growth retardation, and/or hypotonia Tags Q3_25_demote_red

Panel

Reviews

Mode of inheritance

Details

Level 2: Developmental disorders
Version 9.285
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

608363
Chromosome 22q11.2 microduplication syndrome
dysmorphic facial features, cognitive deficits, velopharyngeal insufficiency, congenital heart defects and immunologic derangement
delayed psychomotor development, growth retardation, and/or hypotonia