ZIC2_HPE5_GCN

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green ZIC2_HPE5_GCN STR in Holoprosencephaly and septo-optic dysplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Holoprosencephaly 5 MIM#609637
Tags
  • paediatric-onset

Green ZIC2_HPE5_GCN STR in Mendeliome


Version 1.4851

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Holoprosencephaly 5 MIM#609637
Tags
  • paediatric-onset

Green ZIC2_HPE5_GCN STR 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
  • Holoprosencephaly 5 MIM#609637
Tags
  • paediatric-onset

Green ZIC2_HPE5_GCN STR in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.318

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Holoprosencephaly 5 MIM#609637
Tags
  • paediatric-onset

Green ZIC2_HPE5_GCN STR in Repeat Disorders


Version 0.272

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Holoprosencephaly 5 MIM#609637
Tags
  • paediatric-onset

Green ZIC2_HPE5_GCN STR in Fetal anomalies


Version 1.576

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Holoprosencephaly 5 MIM#609637
Tags
  • paediatric-onset