Description
This panel is a component of super panel 'Paediatric disorders'; it is not directly used for analysis in the NHS Genomic Medicine Service outside that context. Changes made to this panel will automatically be updated in the relevant super panel(s).

The content of this panel (version 1.1: https://panelapp.genomicsengland.co.uk/api/v1/panels/479/?version=1.1) was signed off as part of 'Paediatric disorders' super panel under NHS Genomic Medicine Service governance on (11 Feb 2020).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated version number.

This panel is intended to capture genes not present with a Green rating on the other constituent panels of the super panel 'Paediatric disorders'.

10 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Lu Raymond (university of cambridge )

    Group: GeCIP domain
    Workplace: Research lab

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

41 Entities

41 reviewed, 14 green

List Entity Reviews Mode of inheritance Details
41 Entitiess
Green Green List (high evidence)
ABL1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital heart defects and skeletal malformations syndrome 617602
Tags
  • missense
Green Green List (high evidence)
ACTC1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Atrial septal defect 5
  • Cardiomyopathy, hypertrophic, 11
  • Cardiomyopathy, dilated, 1R
  • Left ventricular noncompaction 4
Tags
Green Green List (high evidence)
ACVR2B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751
Tags
Green Green List (high evidence)
ASCC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
  • spinal muscular atrophy
  • arthrogryposis
  • fetal akinesia
  • hypotonia
  • contractures
Tags
Green Green List (high evidence)
CDX1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • anorectal malformation
Tags
Green Green List (high evidence)
CFAP53
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Heterotaxy, visceral, 6, autosomal recessive
Tags
Green Green List (high evidence)
CFC1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Heterotaxy, visceral, 2, autosomal 605376
Tags
Green Green List (high evidence)
GDF1
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Right atrial isomerism (Ivemark), 208530
  • Congenital heart defects, multiple types, 6, 613854
Tags
Green Green List (high evidence)
IARS
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093
Tags
  • new-gene-name
Green Green List (high evidence)
IER3IP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, 614231
  • MEDS
Tags
Green Green List (high evidence)
MYH7
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1S
  • Left ventricular noncompaction 5
  • Cardiomyopathy, hypertrophic, 1
  • Myopathy, myosin storage, autosomal recessive
  • Myopathy, myosin storage, autosomal dominant
  • Scapuloperoneal syndrome, myopathic type
  • Laing distal myopathy
Tags
Green Green List (high evidence)
SOX11
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27
  • Coffin-Siris syndrome 9, 615866
Tags
Green Green List (high evidence)
TRAP1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CAKUT
  • VACTERL
Tags
Green Green List (high evidence)
TTN
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY
Tags
Amber Amber List (moderate evidence)
ACE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • CAKUT
  • Renal Tubular Dysgenesis
Tags
  • for-review
Amber Amber List (moderate evidence)
ACTG2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • CAKUT
  • Megacystis-microcolon intestinal hypoperistalsis syndrome
  • Visceral myopathy, 155310
  • Berdon syndrome
Tags
  • for-review
Amber Amber List (moderate evidence)
AGT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Renal tubular dysgenesis, 267430
  • CAKUT
Tags
  • for-review
Amber Amber List (moderate evidence)
AGTR1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • CAKUT
  • Hypertension, essential, 145500
  • Renal Tubular Dysgenesis
  • Renal tubular dysgenesis, 267430
Tags
  • for-review
Amber Amber List (moderate evidence)
ANOS1
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • CAKUT
  • Kallman syndrome
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700
Tags
  • for-review
Amber Amber List (moderate evidence)
CHRNA3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • CAKUT
  • dysautonomia
  • Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800
Tags
  • for-review
Amber Amber List (moderate evidence)
GATA3
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • CAKUT
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
  • Hypoparathyroidism, Sensorineural Deafness, and Renal Disease
Tags
  • for-review
Amber Amber List (moderate evidence)
GREB1L
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • CAKUT
  • Renal hypodysplasia/aplasia 3, 617805
  • inner ear malformations
Tags
  • for-review
Amber Amber List (moderate evidence)
ITGA8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • CAKUT
  • Renal hypodysplasia/aplasia 1, 191830
Tags
  • for-review
Amber Amber List (moderate evidence)
LRIG2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • CAKUT
  • Urofacial syndrome 2, 615112
  • Congenital bladder disease: dyssynergic, high pressure bladder.
  • Urofacial syndrome
Tags
  • for-review
Amber Amber List (moderate evidence)
MYOCD
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Megabladder, congenital 618719
Tags
  • for-review
Amber Amber List (moderate evidence)
NADSYN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Literature
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 3 618845
Tags
  • for-review
Amber Amber List (moderate evidence)
PLD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • South West GLH
Phenotypes
  • Cardiac valvular defect, developmental
Tags
Amber Amber List (moderate evidence)
REN
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • CAKUT
  • [Hyperproreninemia]
  • Hyperuricemic nephropathy, familial juvenile 2, 613092
  • Renal tubular dysgenesis, 267430
Tags
  • for-review
Amber Amber List (moderate evidence)
TBX18
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • CAKUT
  • Congenital anomalies of kidney and urinary tract 2, 143400
Tags
  • for-review
Red Red List (low evidence)
CITED2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
Phenotypes
  • Atrial septal defect 8
  • Ventricular septal defect 2
Tags
Red Red List (low evidence)
CRELD1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
Phenotypes
  • Atrioventricular septal defect, partial, with heterotaxy syndrome
  • Atrioventricular septal defect, susceptibility to, 2
Tags
Red Red List (low evidence)
DNAH11
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
Phenotypes
  • Ciliary dyskinesia, primary, 7, with or without situs inversus
Tags
Red Red List (low evidence)
DNAH5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus
Tags
Red Red List (low evidence)
DNAI1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
Phenotypes
  • Ciliary dyskinesia, primary, 1, with or without situs inversus
Tags
Red Red List (low evidence)
FOXH1
1 review
1 red
Unknown
Sources
  • South West GLH
Tags
Red Red List (low evidence)
GATA5
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
Phenotypes
  • Congenital heart defects, multiple types, 5
Tags
Red Red List (low evidence)
NKX2-6
1 review
1 red
Unknown
Sources
  • South West GLH
Phenotypes
  • Conotruncal heart malformations
  • Persistent truncus arteriosus
Tags
Red Red List (low evidence)
PRDM6
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
Phenotypes
  • Patent ductus arteriosus 3
Tags
Red Red List (low evidence)
STK4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
Phenotypes
  • T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
Tags
Red Red List (low evidence)
TLL1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
Phenotypes
  • Atrial septal defect 6
Tags
Red Red List (low evidence)
ZFPM2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
Phenotypes
  • Tetralogy of Fallot
Tags

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