PanelApp (test)
  1. Genes and Genomic Entities
  2. ISCA-37434-Loss

ISCA-37434-Loss

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green ISCA-37434-Loss Region in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
  • NHS GMS
Phenotypes
  • microcephaly
  • 1p36 deletion syndrome
  • large anterior fontanels
  • large, late-closing anterior fontanel
  • deep-set eyes
  • central nervous system anomalies
  • pointed chin
  • heart defects
  • poor/absent speech
  • hypotonia
  • brachycephaly
  • hearing impairment
  • 607872
  • growth impairment
  • flat nose
  • nasal bridge
  • mental retardation
  • seizures
  • epicanthus
  • microbrachycephaly
  • posteriorly rotated, low-set, abnormal ears
  • developmental delay
  • distinct dysmorphic features

Green ISCA-37434-Loss Region in Common deletion and duplication syndromes


Version 0.137

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chromosome 1p36 deletion syndrome MIM#607872
  • intellectual disability
  • hypotonia
  • congenital anomalies