ISCA-37447-Loss

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green ISCA-37447-Loss Region in Mendeliome


Version 2.636

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • ClinGen
  • ClinGen
Phenotypes
  • Temple syndrome MIM#616222
  • Kagami-Ogata syndrome MIM#608149
Tags
  • SV/CNV

Green ISCA-37447-Loss Region in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.161

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • ClinGen
  • ClinGen
Phenotypes
  • Temple syndrome MIM#616222
  • Kagami-Ogata syndrome MIM#608149
Tags
  • SV/CNV

Green ISCA-37447-Loss Region in Common deletion and duplication syndromes


Version 1.7

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Temple syndrome MIM#616222
  • Kagami-Ogata syndrome MIM#608149
Tags
  • SV/CNV

Green ISCA-37447-Loss Region in Growth failure


Version 2.28

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • ClinGen
  • ClinGen
Phenotypes
  • Temple syndrome MIM#616222
  • Kagami-Ogata syndrome MIM#608149
Tags
  • SV/CNV

Green ISCA-37447-Loss Region in Imprinting disorders


Version 2.1

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • ClinGen
  • ClinGen
  • ClinGen
  • ClinGen
Phenotypes
  • Temple syndrome MIM#616222
  • Kagami-Ogata syndrome MIM#608149
Tags
  • SV/CNV

Green ISCA-37447-Loss Region in Fetal anomalies


Version 2.91

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • ClinGen
  • ClinGen
Phenotypes
  • Temple syndrome MIM#616222
  • Kagami-Ogata syndrome MIM#608149
Tags
  • SV/CNV