ISCA-37397-Loss

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green ISCA-37397-Loss Region in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.65	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes diaphragmatic hernia mild skeletal abnormalities uterine didelphys 611867 DiGeorge syndrome (DGS) clinodactyly velocardiofacial syndrome ADHD Goldenhar syndrome prematurity developmental delay micropephaly cardiovascular defects Seizures global developmental delay language delay prenatal and postnatal growth delay Hyptonia
Red ISCA-37397-Loss Region in Growth failure in early childhood Version 3.94 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red ClinGen Phenotypes Chromosome 22q11.2 deletion syndrome, distal, OMIM:611867
Green ISCA-37397-Loss Region in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) 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 diaphragmatic hernia mild skeletal abnormalities uterine didelphys 611867 DiGeorge syndrome (DGS) clinodactyly velocardiofacial syndrome ADHD Goldenhar syndrome prematurity developmental delay micropephaly cardiovascular defects Seizures global developmental delay language delay prenatal and postnatal growth delay Hyptonia