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This Panel is marked as Internal

Newborns additional phenotypes panel 2 (Version 0.31)


Panel types: Research
Description
This is a component panel of "Newborn Genomes Superpanel" (https://panelapp.genomicsengland.co.uk/panels/1275/)
This panel includes genes which have multiple phenotypes.
Panel Activity

3 reviewers

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Mafalda Gomes (Genomics England Curator)

    Group: Other
    Workplace: Other

11 Entities

11 reviewed, 4 green

List Entity Reviews Mode of inheritance Details
11 Entitiess
Green List (high evidence)
APOB
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypercholesterolaemia, familial, 2 autosomal recessive
Tags
  • special_consideration
Green List (high evidence)
GH1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Isolated growth hormone deficiency type II, autosomal dominant
Tags
  • special_consideration
Green List (high evidence)
KCNJ11
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Diabetes, permanent neonatal 2, with or without neurologic features
Tags
  • internal_inclusion_list_only
  • special_consideration
Green List (high evidence)
TLR3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 83 dominant negative
Tags
Amber List (moderate evidence)
ABCC8
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Diabetes mellitus, permanent neonatal 3, with or without neurologic features, autosomal dominant
Tags
Amber List (moderate evidence)
CARD11
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 11B with atopic dermatitis
Tags
Amber List (moderate evidence)
CFH
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Complement factor H deficiency, autosomal dominant
Tags
  • condition_removed
Amber List (moderate evidence)
GNAS
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Pseudohypoparathyroidism Ic
Tags
Amber List (moderate evidence)
RAC2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 73A
Tags
Amber List (moderate evidence)
SCN4A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Hyperkalemic periodic paralysis
Tags
Red List (low evidence)
CASR
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • familial hypocalciuric hypercalcemia type I
Tags

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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