Paediatric disorders - additional genes (Version 3.10)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

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).

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

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 signed off 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'.

Panel Activity

20 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
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Anna de Burca (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Alistair Pagnamenta (University of Oxford)

Group: GeCIP domain
Workplace: Research lab
Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Rhiannon Mellis (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ronnie Wright (North West GLH)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Julie Evans (South West Genomic Laboratory Hub)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

66 Entities

66 reviewed, 49 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 66 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)	ACE	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes CAKUT Renal Tubular Dysgenesis Tags
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)	ACTG2	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes CAKUT Megacystis-microcolon intestinal hypoperistalsis syndrome Visceral myopathy, 155310 Berdon syndrome 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)	ADAMTS19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Non-syndromic heart valve disease heart valve disease, MONDO:0002869 Tags
Green Green List (high evidence)	AGT	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Renal tubular dysgenesis, 267430 CAKUT Tags
Green Green List (high evidence)	AGTR1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes CAKUT Hypertension, essential, 145500 Renal Tubular Dysgenesis Renal tubular dysgenesis, 267430 Tags
Green Green List (high evidence)	ANOS1	3 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Other Phenotypes CAKUT Kallman syndrome Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 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)	CDH2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065 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 gene-checked
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)	CHRNA3	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes CAKUT dysautonomia Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800 Tags
Green Green List (high evidence)	CTU2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, OMIM:618142 Tags
Green Green List (high evidence)	FOXI3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green NHS GMS Phenotypes Bilateral Microtia Congenital aural atresia Tags
Green Green List (high evidence)	FOXL2	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Tags
Green Green List (high evidence)	FOXP4	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder multiple congenital abnormalities Tags gene-checked
Green Green List (high evidence)	GATA3	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes CAKUT Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease Tags
Green Green List (high evidence)	GDF1	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH Phenotypes Congenital heart defects, multiple types, 6, OMIM:613854 Right atrial isomerism (Ivemark), OMIM:208530 Tags
Green Green List (high evidence)	GREB1L	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes CAKUT Renal hypodysplasia/aplasia 3, 617805 inner ear malformations Tags gene-checked
Green Green List (high evidence)	HYAL2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes cor triatriatum congenital cardiac malformations Tags gene-checked
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)	ITGA8	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes CAKUT Renal hypodysplasia/aplasia 1, 191830 Tags
Green Green List (high evidence)	LRIG2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes CAKUT Urofacial syndrome 2, 615112 Congenital bladder disease: dyssynergic, high pressure bladder. Urofacial syndrome 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 Laing distal myopathy, OMIM:160500 Laing early-onset distal myopathy, MONDO:0008050 Scapuloperoneal syndrome, myopathic type, OMIM:181430 MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409 Cardiomyopathy, hypertrophic, 1, OMIM:192600 Hypertrophic cardiomyopathy 1, MONDO:0008647 Cardiomyopathy, dilated, 1S, OMIM:613426 Dilated cardiomyopathy 1S, MONDO:0013262 Myopathy, myosin storage, autosomal dominant, OMIM:608358 Myopathy, myosin storage, autosomal dominant, MONDO:0012018 Left ventricular noncompaction 5, OMIM:613426 Tags
Green Green List (high evidence)	MYOCD	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Megabladder, congenital, OMIM:618719 Megabladder, congenital, MONDO:0032879 Tags
Green Green List (high evidence)	NADSYN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 3 618845 Tags
Green Green List (high evidence)	NHLRC2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes FINCA syndrome OMIM:618278 Tags gene-checked
Green Green List (high evidence)	OTUD5	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green NHS GMS Phenotypes Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056 Tags
Green Green List (high evidence)	PAPPA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Short stature, Dauber-Argente type, OMIM:619489 Tags gene-checked
Green Green List (high evidence)	PIGQ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome-4 OMIM:618548 Tags
Green Green List (high evidence)	PLD1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Cardiac valvular defect, developmental, OMIM:212093 Tags Q2_24_demote_red Q2_24_expert_review
Green Green List (high evidence)	PLVAP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Diarrhoea 10, protein-losing enteropathy type, OMIM:618183 Tags
Green Green List (high evidence)	PLXND1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Truncus arteriosus, HP:0001660 Tags
Green Green List (high evidence)	REN	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes CAKUT [Hyperproreninemia] Hyperuricemic nephropathy, familial juvenile 2, 613092 Renal tubular dysgenesis, 267430 Tags
Green Green List (high evidence)	RINT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Infantile liver failure syndrome 3 OMIM:618641 infantile liver failure syndrome 3 MONDO:0032844 Tags
Green Green List (high evidence)	SIX2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes six2-related frontonasal dysplasia, MONDO:0044628 Tags gene-checked structural-variant
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)	STN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341 Tags
Green Green List (high evidence)	TBX18	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes CAKUT Congenital anomalies of kidney and urinary tract 2, 143400 Tags
Green Green List (high evidence)	TMEM260	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS PAGE DD-Gene2Phenotype Phenotypes Structural heart defects and renal anomalies syndrome, OMIM:617478 Structural heart defects and renal anomalies syndrome, MONDO:0044321 Tags
Green Green List (high evidence)	TOR1AIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072 Tags
Green Green List (high evidence)	TRAP1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CAKUT VACTERL Tags gene-checked
Green Green List (high evidence)	TSPYL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Sudden infant death with dysgenesis of the testes syndrome OMIM:608800 sudden infant death-dysgenesis of the testes syndrome MONDO:0012124 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
Green Green List (high evidence)	WBP11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227 Tags gene-checked
Amber Amber List (moderate evidence)	FGF5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Hypertrichosis long eyelashes Tags
Amber Amber List (moderate evidence)	NOTCH3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Lateral meningocele syndrome, OMIM:130720 Tags Q4_23_expert_review Q4_23_promote_green
Amber Amber List (moderate evidence)	TAB2	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London South GLH NHS GMS Phenotypes Congenital heart defects, nonsyndromic, 2, OMIM:614980 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	WNT9B	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Renal agenesis/hypoplasia/dysplasia Tags watchlist
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)	VIM	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes lipodystrophy HP:0009125 Craniofacial dysostosis HP:0004439 Thoracic scoliosis HP:0002943 amyotrophy 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, OMIM:187500 Tags

Major version comments

2023-03-22 15:14 Arina Puzriakova (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2022-11-30 13:44 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 2.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

2019-12-12 14:02 Rebecca Foulger (Genomics England curator) promoted panel to 1.0
The content of this panel (version 0.47) was signed off as part of the 'Paediatric disorders' super panel, under NHS Genomic Medicine Service governance on (12/December/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Paediatric disorders - additional genes (Version 3.10)

20 reviewers

66 Entities

66 reviewed, 49 green

1 review

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2 reviews

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3 reviews