ISCA-37446-Loss

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green ISCA-37446-Loss Region in COVID-19 research


Level 2: Viral research
Version 1.80

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • 188400
  • clefting
  • Velocardiofacial syndrome
  • neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells
  • cardiac malformations
  • Hearing deficits
  • DiGeorge syndrome
  • micrognathia

Green ISCA-37446-Loss Region in Primary immunodeficiency


Version 2.480
Latest signed off version: v2.1 (24 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • 188400
  • neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells
  • micrognathia
  • clefting
  • Hearing deficits
  • Velocardiofacial syndrome
  • cardiac malformations
  • DiGeorge syndrome

Green ISCA-37446-Loss Region in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.65

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • 188400
  • neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells
  • micrognathia
  • clefting
  • Hearing deficits
  • Velocardiofacial syndrome
  • cardiac malformations
  • DiGeorge syndrome

Green ISCA-37446-Loss Region in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.60
Latest signed off version: v2.2 (4 Mar 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • 188400
    • neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells
    • micrognathia
    • clefting
    • Hearing deficits
    • Velocardiofacial syndrome
    • cardiac malformations
    • DiGeorge syndrome

    Green ISCA-37446-Loss Region in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.451
    Latest signed off version: v2.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • micrognathia
    • neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells
    • clefting
    • DiGeorge syndrome
    • Velocardiofacial syndrome
    • 188400
    • cardiac malformations
    • Hearing deficits

    Green ISCA-37446-Loss Region in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1395
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells
    • micrognathia
    • clefting
    • Hearing deficits
    • Velocardiofacial syndrome
    • cardiac malformations
    • DiGeorge syndrome