Ectodermal dysplasia (Version 3.29)

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 used for clinical indication 'R163 Ectodermal dysplasia' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R163 Ectodermal dysplasia'.

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. 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 for the GMS panels. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

This panel was originally created using genes and their overall ratings from the following panels:
- Ectodermal dysplasia without a known gene mutation (v1.15, code 136)
- Familial cicatricial alopecia (v1.1, code 305)
- Non-syndromic hypotrichosis (v1.1, code 189)

Panel Activity

20 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
John McGrath (King's College London)

Group: GeCIP domain
Workplace: Research lab
Tom Cullup (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
John McGrath (KCL)

Group: GeCIP domain
Workplace: Research lab
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
Celia Moss (Birmingham Children's Hospital)

Group: GeCIP domain
Workplace: NHS clinical service
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Rachel Jones (GSTT)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Ronnie Wright (North West GLH)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Gavin Ryan (West Midlands Regional Genetics Laboratory)

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

Group: Other
Workplace: Other
Yu Leng Phua (Icahn School of Medicine at Mount Sinai and ClinGen)

Group: Other
Workplace: Other diagnostic lab
Mafalda Gomes (Genomics England Curator)

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

Group: Other
Workplace: Other

84 Entities

84 reviewed, 37 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 84 Entitiess
Green Green List (high evidence)	ANAPC1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368 Tags
Green Green List (high evidence)	APCDD1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Hypotrichosis 1 non-syndromic hereditary hypotrichosis Hypotrichosis 1, 605389 Hypotrichosis simplex (HS) Hereditary hypotrichosis simplex (HHS) Tags
Green Green List (high evidence)	AXIN2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Oligodontia-colorectal cancer syndrome, OMIM:608615 Tags
Green Green List (high evidence)	C3orf52	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypotrichosis 15, OMIM:620177 Tags
Green Green List (high evidence)	CDH3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 Tags
Green Green List (high evidence)	CDSN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Hypotrichosis 2, OMIM:146520 Tags
Green Green List (high evidence)	DSG4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HYPT6 localized autosomal recessive hypotrichosis-1 (LAH1) Hypotrichosis with broken hairs and follicular hyperkeratosis (variable severity and extent) Autosomal recessive hypotrichosis Hereditary hypotrichosis simplex (HHS) Localized AR Hypotrichosis localized autosomal recessive hypotrichosis Hypotrichosis 6, 607903 Hypotrichosis simplex (HS) Tags
Green Green List (high evidence)	EDA	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Ectodermal dysplasia 1 hypohidrotic X-linked Tooth agenesis, selective, X-linked 1, 313500 Hypohidrotic Ectodermal Dysplasia Ectodermal Dysplasia 1, Hypohidrotic, X-Linked Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 Tags
Green Green List (high evidence)	EDAR	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypohidrotic Ectodermal Dysplasia, Dominant [Hair morphology 1, hair thickness], 612630 Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia [Hair morphology 1, hair thickness], 612630 -3 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 Tags
Green Green List (high evidence)	EDARADD	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypohidrotic Ectodermal Dysplasia, Recessive Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 Hypohidrotic ectodermal dysplasia Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, 614940 Tags
Green Green List (high evidence)	GJB6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Ectodermal dysplasia 2, Clouston type, 129500 Clouston syndrome Hidrotic Ectodermal Dysplasia Tags
Green Green List (high evidence)	GRHL2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ectodermal dysplasia/short stature syndrome, OMIM:616029 Tags
Green Green List (high evidence)	HOXC13	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ectodermal dysplasia 9, hair/nail type, 614931 Tags
Green Green List (high evidence)	HR	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Marie Unna hereditary hypotrichosis (MUHH) Alopecia universalis, OMIM:203655 Atrichia with papular lesions, OMIM:209500 Tags
Green Green List (high evidence)	IKBKG	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Ectodermal dysplasia and immunodeficiency 1, OMIM:300291 Tags
Green Green List (high evidence)	KRT14	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Naegeli-Franceschetti-Jadassohn syndrome 161000 Tags
Green Green List (high evidence)	KRT25	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Woolly hair, autosomal recessive 3, 616760 Tags
Green Green List (high evidence)	KRT74	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Woolly hair, autosomal dominant, OMIM:194300 (AD) ?Hypotrichosis 3, OMIM:613981 (AD) ?Ectodermal dysplasia 7, hair/nail type, OMIM:614929 (AR) Tags watchlist_moi
Green Green List (high evidence)	KRT85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ectodermal dysplasia, pure hair and nail type Ectodermal dysplasia 4, hair/nail type, 602032 Tags
Green Green List (high evidence)	LIPH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypotrichosis 7, 604379 HYPT7 localized autosomal recessive hypotrichosis-2 (LAH2) Autosomal recessive hypotrichosis Hereditary hypotrichosis simplex (HHS) Hypotrichosis simplex (HS) Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 Tags
Green Green List (high evidence)	LPAR6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypotrichosis 8 Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150 HYPT8 localized autosomal recessive hypotrichosis-3 (LAH3) Autosomal recessive hypotrichosis Hereditary hypotrichosis simplex (HHS) Hypotrichosis simplex (HS) Hypotrichosis 8, 278150 Tags
Green Green List (high evidence)	MBTPS2	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes scarring alopecia KFSDX Keratosis follicularis spinulosa decalvans, X-linked, 208800 (includes progressive cicatricial alopecia of the scalp) Tags
Green Green List (high evidence)	MSX1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ectodermal dysplasia 3, Witkop type, OMIM:189500 Tags
Green Green List (high evidence)	NECTIN1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cleft lip/palate-ectodermal dysplasia syndrome, 225060 Orofacial cleft 7, 225060 Tags
Green Green List (high evidence)	NECTIN4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ectodermal dysplasia-syndactyly syndrome 1 613573 Tags
Green Green List (high evidence)	NFKB2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Immunodeficiency, common variable, 10 615577 Tags
Green Green List (high evidence)	NFKBIA	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132 Tags
Green Green List (high evidence)	PKP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ectodermal dysplasia/skin fragility syndrome, 604536 Ectodermal Dysplasia/Skin Fragility Syndrome Tags
Green Green List (high evidence)	PORCN	2 reviews 1 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 Green Phenotypes Focal dermal hypoplasia 305600 Tags
Green Green List (high evidence)	PRKD1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Congenital heart defects and ectodermal dysplasia, 617364 Tags
Green Green List (high evidence)	RMRP	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cartilage-hair hypoplasia 250250 Tags
Green Green List (high evidence)	RSPO4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green Green List (high evidence)	SNRPE	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Hypotrichosis 11, OMIM:615059 Tags
Green Green List (high evidence)	ST14	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ichthyosis, congenital, autosomal recessive 11 OMIM:602400 Some affected persons exhibit scarring alopecia Tags
Green Green List (high evidence)	TP63	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes ADULT syndrome, OMIM:103285 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292 Hay-Wells syndrome, OMIM:106260 Limb-mammary syndrome, OMIM:603543 Rapp-Hodgkin syndrome, OMIM:129400 Split-hand/foot malformation 4, OMIM:605289 Tags
Green Green List (high evidence)	TSPEAR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180 Tags
Green Green List (high evidence)	WNT10A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Schopf-Schulz-Passarge syndrome, OMIM:224750 Odontoonychodermal dysplasia, OMIM:257980 Tags
Amber Amber List (moderate evidence)	GJB2	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hystrix-like ichthyosis with deafness, 602540 clouston syndrome Scarring alopecia HID syndrome Tags
Amber Amber List (moderate evidence)	HLA-DRA	2 reviews	Unknown	Sources Expert Review Amber Phenotypes lichen planopilaris progressive cicatricial (scarring) alopecia Graham Little syndrome Graham Little-Piccardi-Lassueur syndrome Tags
Amber Amber List (moderate evidence)	KREMEN1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Ectodermal dysplasia 13, hair/tooth type, 617392 Tags
Amber Amber List (moderate evidence)	KRT71	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes hypotrichosis ?Hypotrichosis 13, 615896 HYPT13 woolly hair Tags
Amber Amber List (moderate evidence)	KRT81	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Monilethrix, OMIM:158000 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	KRT83	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Monilethrix, OMIM:158000 Tags watchlist
Amber Amber List (moderate evidence)	KRT86	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Monilethrix, OMIM:158000 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	LEF1	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes ectodermal dysplasia syndrome, MONDO:0019287 Tags deletions Q1_24_promote_green
Amber Amber List (moderate evidence)	LRP6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Tooth agenesis, selective, 7, OMIM:616724 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	LSS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hypotrichosis 14 OMIM:618275 hypotrichosis 14 MONDO:0032649 Tags
Amber Amber List (moderate evidence)	PPP1R13L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	RIPK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes CHAND syndrome, OMIM:214350 Popliteal pterygium syndrome, Bartsocas-Papas type 1, OMIM:263650 ectodermal dysplasia syndrome, MONDO:0019287 Tags Q1_23_promote_green
Amber Amber List (moderate evidence)	SDR9C7	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes autosomal recessive congenital ichthyosis (ARCI) type 7 (includes scarring alopecia) Tags
Amber Amber List (moderate evidence)	SREBF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Ichthyosis, follicular, with atrichia and photophobia syndrome 2, MIM# 619016, MONDO:0100221 Mucoepithelial dysplasia, hereditary, MIM# 158310, MONDO:0008017 Tags Q4_22_promote_green
Amber Amber List (moderate evidence)	TUFT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ectodermal dysplasia syndrome, MONDO:0019287 Tags
Red Red List (low evidence)	ABCA12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Some affected persons exhibit scarring alopecia Ichthyosis, autosomal recessive 4B (harlequin), 242500 Lamellar ichthyosis Ichthyosis, congenital, autosomal recessive 4A, 601277 Tags
Red Red List (low evidence)	AIRE	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300 Tags
Red Red List (low evidence)	ALOX12B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Some affected persons exhibit scarring alopecia Ichthyosis, congenital, autosomal recessive 2, 242100 Lamellar ichthyosis Tags
Red Red List (low evidence)	ALOXE3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Some affected persons exhibit scarring alopecia Ichthyosis, congenital, autosomal recessive 3, 606545 Tags
Red Red List (low evidence)	AR	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes Androgen insensitivity, OMIM:300068 Androgen insensitivity, partial, with or without breast cancer, OMIM:312300 Hypospadias 1, X-linked, OMIM:300633 Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 Tags
Red Red List (low evidence)	C2	1 review	Not set	Sources Expert Review Red Phenotypes discoid (cutaneous) lupus discoid lupus erythematosus Tags
Red Red List (low evidence)	C5	1 review	Not set	Sources Expert Review Red Phenotypes discoid lupus erythematosus Tags
Red Red List (low evidence)	CERS3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Some affected persons exhibit scarring alopecia Ichthyosis, congenital, autosomal recessive 9, 615023 Tags
Red Red List (low evidence)	CLDN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 scarring alopecia Tags
Red Red List (low evidence)	CREBBP	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Rubinstein-Taybi syndrome 1, 180849 Tags
Red Red List (low evidence)	CYBB	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Phenotypes CGD Chronic granulomatous disease, X-linked, 306400 discoid lupus erythematosus Tags
Red Red List (low evidence)	CYP4F22	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Some affected persons exhibit scarring alopecia Lamellar ichthyosis Ichthyosis, congenital, autosomal recessive 5, 604777 Tags
Red Red List (low evidence)	DHX30	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	DHX40	1 review	Not set	Sources Expert Review Red Phenotypes Ectodermal dysplasia Tags
Red Red List (low evidence)	DSC3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes hypotrichosis and recurrent skin vesicles disorder, 613102 HRSV ?Hypotrichosis and recurrent skin vesicles, 613102 Tags
Red Red List (low evidence)	DSP	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Ectodermal Dysplasia/Skin Fragility Syndrome Tags
Red Red List (low evidence)	IFT122	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Cranioectodermal dysplasia 1, 218330 Cranioectodermal Dysplasia Tags
Red Red List (low evidence)	IFT43	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Cranioectodermal dysplasia 3, 614099 Cranioectodermal Dysplasia Tags
Red Red List (low evidence)	ITGA6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Epidermolysis Bullosa with Pyloric Atresia EB-PA Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 scarring alopecia Tags
Red Red List (low evidence)	ITGB4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Epidermolysis Bullosa with Pyloric Atresia Epidermolysis bullosa, junctional, with pyloric atresia, 226730 EB-PA scarring alopecia Tags
Red Red List (low evidence)	LIPN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Some affected persons exhibit scarring alopecia Lamellar ichthyosis Ichthyosis, congenital, autosomal recessive 8, 613943 Tags
Red Red List (low evidence)	NIPAL4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Some affected persons exhibit scarring alopecia Lamellar ichthyosis Ichthyosis, congenital, autosomal recessive 6, 612281 Tags
Red Red List (low evidence)	PLEC	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive , OMIM:616487 Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950 Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138 Tags
Red Red List (low evidence)	PNPLA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Ichthyosis, congenital, autosomal recessive 10, 615024 Some affected persons exhibit scarring alopecia Tags
Red Red List (low evidence)	PPARG	1 review	Unknown	Sources Expert Review Red Phenotypes lichen planopilaris LPP PCA primary cicatricial alopecia scarring alopecia Tags
Red Red List (low evidence)	RPL21	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes HYPT12 Hypotrichosis 12, 615885 Hypotrichosis simplex (HS) Hereditary hypotrichosis simplex (HHS) Tags
Red Red List (low evidence)	TGM1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Some affected persons exhibit scarring alopecia Lamellar ichthyosis Ichthyosis, congenital, autosomal recessive 1, 242300 Tags
Red Red List (low evidence)	TSPYL2	1 review	Unknown	Sources Expert Review Red Phenotypes discoid lupus erythematosus Tags
Red Red List (low evidence)	WDR19	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Cranioectodermal dysplasia 4, 614378 Cranioectodermal Dysplasia Asphyxiating thoracic dystrophy 5, 614376 Nephronophthisis 13, 614377 Tags
Red Red List (low evidence)	WDR35	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Short rib-polydactyly syndrome, type V, 614091 Cranioectodermal dysplasia 2, 613610 Cranioectodermal Dysplasia Tags
Red Red List (low evidence)	WNT7A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Fuhrmann syndrome, 228930 Tags
No list No list	TWIST2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Phenotypes Focal facial dermal dysplasia 3, Setleis type Tags

Major version comments

2023-03-22 16:26 Sarah Leigh (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 15:14 Catherine Snow (Genomics England) 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)

2019-12-12 17:02 Ivone Leong (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.35) was signed off under NHS Genomic Medicine Service governance on (12/12/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Ectodermal dysplasia (Version 3.29)

20 reviewers

84 Entities

84 reviewed, 37 green

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