ISCA-37486-Loss

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ISCA-37486-Loss Region in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.250

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3
  • intellectual disability
  • autism
  • obesity
Tags
  • SV/CNV

Green ISCA-37486-Loss Region in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.780

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3
  • intellectual disability
  • autism
  • obesity
Tags
  • SV/CNV

Green ISCA-37486-Loss Region in Common deletion and duplication syndromes


Version 0.158

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3
  • intellectual disability
  • autism
  • obesity
Tags
  • SV/CNV

Green ISCA-37486-Loss Region in Severe early-onset obesity


Level 2: Endocrine disorders
Version 1.32

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3
  • intellectual disability
  • autism
  • obesity
Tags
  • SV/CNV