The latest signed off version for the GMS is v7.0. The current version, shown here, may differ from the signed-off version.

Paediatric disorders - additional genes (Version 7.31)

Level 2: Developmental disorders

Panel types: Component Of Super Panel, GMS signed-off
Latest signed off version: v7.0 (30 Apr 2025)
Previously signed off versions: v6.0, v5.0, v4.0, v3.0, v2.0, v1.1

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

24 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Tracy Lester (Genetics laboratory, Oxford UK)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Lu Raymond (university of cambridge )

Group: GeCIP domain
Workplace: Research lab
Ian Berry (Leeds Genetics Laboratory)

Group: Other NHS organisation
Workplace: NHS diagnostic 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 (Oxford University Hospitals NHS Foundation Trust)

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
Verity Hartill (Leeds Teaching Hospitals NHS Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ida Ertmanska (Genomics England Curator)

Group: Other
Workplace: Other

85 Entities

85 reviewed, 52 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 85 Entitiess
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 List (high evidence)	ACE	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes CAKUT Renal Tubular Dysgenesis Tags
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 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 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 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 List (high evidence)	AGT	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Renal tubular dysgenesis, 267430 CAKUT Tags
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 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 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 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 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 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 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 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 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 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 List (high evidence)	FOXL2	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Tags
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 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 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 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 List (high evidence)	HYAL2	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muggenthaler-Chowdhury-Chioza syndrome, OMIM:621063 Tags
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 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 List (high evidence)	ITGA8	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes CAKUT Renal hypodysplasia/aplasia 1, 191830 Tags
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 List (high evidence)	MYH11	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708 Tags
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 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 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 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 List (high evidence)	NOTCH3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Lateral meningocele syndrome, OMIM:130720 Tags
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 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 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 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 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 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 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 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 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 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 List (high evidence)	TAB2	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS Phenotypes Congenital heart defects, nonsyndromic, 2, OMIM:614980 Tags
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 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 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 List (high evidence)	TRAP1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CAKUT VACTERL Tags gene-checked
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 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 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
Green List (high evidence)	ZNRF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes complex neurodevelopmental disorder, MONDO:0100038 congenital heart disease, MONDO:0005453 Tags gene-checked
Amber List (moderate evidence)	CACHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes syndromic complex neurodevelopmental disorder, MONDO:0800439 Tags dd_review Q1_25_ promote_green
Amber List (moderate evidence)	CHAF1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Oculo-auriculo-vertebral spectrum Tags
Amber List (moderate evidence)	COL5A1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Amber Phenotypes Ehlers-Danlos syndrome, classic type, 1, OMIM:130000 Ehlers-Danlos syndrome, classic type, 1, MONDO:0019567 Tags
Amber List (moderate evidence)	EIF3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes syndromic disease, MONDO:0002254 Tags Q1_26_promote_green
Amber List (moderate evidence)	EIF3B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes syndromic disease, MONDO:0002254 Tags Q1_26_promote_green
Amber List (moderate evidence)	ERCC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebrooculofacioskeletal syndrome 4, OMIM:610758 hepatorenal syndrome, MONDO:0001382 Tags Q3_25_promote_green
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 List (moderate evidence)	GPKOW	4 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber PAGE Additional Gene List Phenotypes microcephaly with intrauterine growth restriction Tags Q3_25_promote_green
Amber List (moderate evidence)	HMGA2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Silver-Russell syndrome 5, OMIM:618908 Tags Q1_25_ NHS_review Q1_25_ promote_green
Amber List (moderate evidence)	IGFALS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Acid-labile subunit, deficiency of, OMIM:615961 short stature due to primary acid-labile subunit deficiency, MONDO:0014420 Tags Q2_25_ NHS_review Q2_25_ promote_green
Amber List (moderate evidence)	ISL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Amber Phenotypes congenital heart disease, MONDO:0005453 Tags Q3_25_promote_green
Amber List (moderate evidence)	KCTD15	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes frontonasal dysplasia, MONDO:0016643 Tags
Amber List (moderate evidence)	MC4R	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Obesity (BMIQ20), OMIM:618406 {Obesity, resistence to (BMIQ20)}, OMIM:618306 Tags Q3_25_NHS_review Q3_25_promote_green
Amber List (moderate evidence)	PLAG1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Silver-Russell syndrome 4, OMIM:618907 Tags Q1_25_ NHS_review Q1_25_ promote_green
Amber List (moderate evidence)	PLD1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Cardiac valvular dysplasia 1, OMIM:212093 Tags Q3_25_expert_review Q3_25_promote_green
Amber List (moderate evidence)	RBFOX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Amber Literature Phenotypes Congenital heart disease, MONDO:0005453 hypoplastic left heart syndrome, MONDO:0004933 Tags Q3_25_promote_green
Amber List (moderate evidence)	SENP7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes arthrogryposis multiplex congenita, MONDO:0015168 Recurrent infections, HP:0002719 Tags Q1_26_promote_green
Amber List (moderate evidence)	SPRTN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Ruijs-Aalfs syndrome, OMIM:616200 progeroid features-hepatocellular carcinoma predisposition syndrome, MONDO:0014527 Tags Q4_25_NHS_review Q4_25_promote_green
Amber List (moderate evidence)	WNT9B	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Renal agenesis/hypoplasia/dysplasia Tags watchlist
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 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 List (low evidence)	DET1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes neurological defects and lethality Tags
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 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 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 List (low evidence)	FOXH1	1 review 1 red	Unknown	Sources South West GLH Tags
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 List (low evidence)	NKX2-6	1 review 1 red	Unknown	Sources South West GLH Phenotypes Conotruncal heart malformations Persistent truncus arteriosus Tags
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 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 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 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 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

2025-04-30 16:47 Eleanor Williams (Genomics England Curator) promoted panel to 7.0
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 (7.0) following this.

2024-10-30 12:16 Sarah Leigh (Genomics England Curator) promoted panel to 6.0
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 (6.0) following this.

2024-08-07 16:18 Arina Puzriakova (Genomics England Curator) promoted panel to 5.0
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 (5.0) following this.

2024-05-01 12:36 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 4.0
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 (4.0) following this.

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 7.31)

24 reviewers

85 Entities

85 reviewed, 52 green

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