1. Genes and Genomic Entities
  2. ISCA-37397-Loss

ISCA-37397-Loss

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green ISCA-37397-Loss Region in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.70

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
Green ISCA-37397-Loss 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
    • 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 Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • ClinGen
    • Expert Review Red
    Phenotypes
    • Chromosome 22q11.2 deletion syndrome, distal, OMIM:611867