Disorders of sex development (Version 4.4)

The latest signed off version for the GMS is v4.0. The current version, shown here, may differ from the signed-off version.

Description

This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R146 Disorders of sex development' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

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 'R146 Disorders of sex development'.

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.

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 developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

Panel Activity

12 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
John Achermann (UCL Institute of Child Health)

Group: GeCIP domain
Workplace: Research lab
emma baple (Genomics England Curator)

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

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

Group: Other
Workplace: Other
Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Stephanie Allen (Consultant Clinical Scientist)

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

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

69 Entities

69 reviewed, 46 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 69 Entitiess
Green Green List (high evidence)	AMH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Persistent Mullerian duct syndrome, type I, 261550 Tags
Green Green List (high evidence)	AMHR2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Persistent Mullerian duct syndrome, type II, 261550 Tags
Green Green List (high evidence)	AR	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Eligibility statement prior genetic testing Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Androgen insensitivity, OMIM:300068 Androgen insensitivity, partial, with or without breast cancer, OMIM:312300 Hypospadias 1, X-linked, OMIM:300633 Tags
Green Green List (high evidence)	ARX	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 Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Corpus Callosum, Agenesis Of, With Abnormal Genitalia, Proud syndrome 300004 ARX-related Disorders Lissencephaly, X-linked 2 300215 Tags
Green Green List (high evidence)	ATRX	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Mental retardation-hypotonic facies syndrome, X-linked 309580 Tags
Green Green List (high evidence)	CDKN1C	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Emory Genetics Laboratory Expert Review Green Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes IMAGE syndrome, 614732 Beckwith-Wiedemann syndrome 130650 Disproportionate Short Stature and Wilms Tumor: Sequencing Panels (Emory) Tags
Green Green List (high evidence)	CHD7	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services OMIM Radboud University Medical Center, Nijmegen UKGTN Phenotypes CHARGE syndrome, 214800 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)	CUL4B	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 XLMR with Short Stature, Small Testes, Muscle Wasting, and Tremor Tags
Green Green List (high evidence)	CYB5A	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Other Radboud University Medical Center, Nijmegen Phenotypes 46,XY underandrogenization with biochemistry similar to isolated 17,20-lyase deficiency Methemoglobinemia, type I, 250790 Tags
Green Green List (high evidence)	CYP11A1	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743 Tags
Green Green List (high evidence)	CYP11B1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green Illumina TruGenome Clinical Sequencing Services Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010 Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN) Tags
Green Green List (high evidence)	CYP17A1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN) Endocrine disorders including disorders of sexual development (Emory) congenital adrenal hyperplasia 17,20-lyase deficiency, isolated 202110 and 17-alpha-hydroxylase/17,20-lyase deficiency 202110 Tags
Green Green List (high evidence)	CYP19A1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Other Radboud University Medical Center, Nijmegen Phenotypes Aromatase deficiency, OMIM:613546 Tags
Green Green List (high evidence)	CYP21A2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN) Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency 201910 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 Tags
Green Green List (high evidence)	DHCR7	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN) Smith-Lemli-Opitz syndrome, 270400 Tags
Green Green List (high evidence)	DHH	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes 46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 46XY sex reversal 7, 233420 Tags
Green Green List (high evidence)	DHX37	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes 46, XY sex reversal 11, 273250 Tags
Green Green List (high evidence)	GATA4	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Testicular anomalies with or without congenital heart disease, OMIM:615542 Tags
Green Green List (high evidence)	HOXA13	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Hand-foot-uterus syndrome, OMIM:140000 Tags
Green Green List (high evidence)	HSD17B3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Gender Assignment Gene Panel (UKGTN) Pseudohermaphroditism, male, with gynecomastia, 264300 Tags
Green Green List (high evidence)	HSD3B2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN) Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810 Tags
Green Green List (high evidence)	11p13 (WAGR syndrome) region Loss ISCA-37401-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome 194072 Tags
Green Green List (high evidence)	Xp21.2 region (includes NR0B1) Gain ISCA-46302-Gain Region	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources ClinGen Expert Review Green Phenotypes gonadal dysgenesis Tags
Green Green List (high evidence)	LHCGR	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Gender Assignment Gene Panel (UKGTN) Endocrine disorders including disorders of sexual development (Emory) Leydic cell hypoplasia type 1, 238320 Precocious puberty, male, 176410 Tags
Green Green List (high evidence)	MAMLD1	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Gender Assignment Gene Panel (UKGTN) Hypospadias 2, X-linked 300758 Tags
Green Green List (high evidence)	MAP3K1	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Other Radboud University Medical Center, Nijmegen Phenotypes 46XY sex reversal 6 613762 Tags
Green Green List (high evidence)	MYRF	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Cardiac-urogenital syndrome, OMIM:618280 gonadal hypoplasia Mullerian duct hypoplasia Tags
Green Green List (high evidence)	NR0B1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes 6XY sex reversal 2, dosage-sensitive 300018 Adrenal hypoplasia, congenital 300200 Tags
Green Green List (high evidence)	NR2F2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes 46,XX sex reversal 5, OMIM:618901 46,XX sex reversal 5, MONDO:0030049 Tags
Green Green List (high evidence)	NR3C1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Glucocorticoid resistance, OMIM:615962 Tags
Green Green List (high evidence)	NR5A1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN) Endocrine disorders including disorders of sexual development (Emory) 46XY sex reversal 3, 612965 Premature ovarian failure 7, 612964 Spermatogenic failure 8, 613957 Tags
Green Green List (high evidence)	POR	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN) Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis AR, 201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 Tags
Green Green List (high evidence)	PPP1R12A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Genitourinary and/or/brain malformation syndrome, 618820 Tags
Green Green List (high evidence)	RPL10	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Mental retardation, X-linked, syndromic, 35 300998 Tags
Green Green List (high evidence)	RSPO1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Palmoplantar hyperkeratosis and true hermaphroditism 610644 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal 610644 Tags
Green Green List (high evidence)	SAMD9	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes MIRAGE syndrome 617053 Tags missense
Green Green List (high evidence)	SGPL1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome 14 617575 Tags
Green Green List (high evidence)	SOX10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Waardenburg syndrome, type 4C 613266 Tags
Green Green List (high evidence)	SOX9	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Gender Assignment & Genital Anomalies and Suspected Adrenal Problems Gene Panels (UKGTN) Campomelic dysplasia with autosomal sex reversal, 114290 Tags
Green Green List (high evidence)	SRD5A2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green Illumina TruGenome Clinical Sequencing Services Other UKGTN Phenotypes Pseudovaginal perineoscrotal hypospadias 264600 Tags
Green Green List (high evidence)	SRY	5 reviews 2 green	Other - please specifiy in evaluation comments	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Testicular dysgenesis/Swyers syndrome 46XX sex reversal 1 400045 46XY sex reversal 1 400044 Tags y-chromosome
Green Green List (high evidence)	STAR	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN) Lipoid adrenal hyperplasia, 201710 Tags
Green Green List (high evidence)	TOE1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 7 614969 Tags
Green Green List (high evidence)	TSPYL1	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Radboud University Medical Center, Nijmegen 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)	WT1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Denys-Drash syndrome 194080 Frasier syndrome 136680 Meacham syndrome 608978 Tags
Amber Amber List (moderate evidence)	ESR2	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes 46,XY disorder of sex development, MONDO:0020040 ?Ovarian dysgenesis 8, OMIM:618187 Tags watchlist
Amber Amber List (moderate evidence)	FGFR2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes LADD syndrome, OMIM:149730 Bent bone dysplasia syndrome, OMIM:614592 Tags
Amber Amber List (moderate evidence)	HHAT	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes 46,XY DSD with chondrodysplasia Nivelon-Nivelon-Mabille syndrome, OMIM:600092 Tags
Amber Amber List (moderate evidence)	PAX8	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), MONDO:0017771 Tags watchlist
Amber Amber List (moderate evidence)	PBX1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes 46, XY gonadal dysgenesis 46,XY partial gonadal dysgenesis, MONDO:0016674 Tags watchlist
Amber Amber List (moderate evidence)	PRDM13	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes congenital hypogonadotropic hypogonadism, MONDO:0015770 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, OMIM:619761 Tags watchlist
Amber Amber List (moderate evidence)	TCF12	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Kallmann syndrome Tags watchlist
Amber Amber List (moderate evidence)	ZFPM2	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Other Phenotypes 46XY sex reversal 9, OMIM:616067 Tags
Red Red List (low evidence)	AKR1C2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Other Radboud University Medical Center, Nijmegen Phenotypes 46XY sex reversal 8 614279 Tags
Red Red List (low evidence)	ATP6V0A4	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN) Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722 Tags
Red Red List (low evidence)	CBX2	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Gender Assignment Gene Panel (UKGTN) 46XY sex reversal 5, 613080 Tags
Red Red List (low evidence)	DGKQ	2 reviews 1 red	Unknown	Sources Expert Review Red UKGTN Tags
Red Red List (low evidence)	DMRT1	2 reviews 1 red	Unknown	Sources Expert Review Red UKGTN Phenotypes Gender Assignment Gene Panel (UKGTN) Tags
Red Red List (low evidence)	ERAL1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Perrault syndrome 6 617565 Tags founder-effect
Red Red List (low evidence)	GLI2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Culler-Jones syndrome, 615849 Holoprosencephaly-9, 610829 Tags
Red Red List (low evidence)	HSD17B2	2 reviews 1 red	Unknown	Sources Expert Review Red UKGTN Phenotypes Gender Assignment Gene Panel (UKGTN) Tags
Red Red List (low evidence)	INPP5E	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 Tags
Red Red List (low evidence)	MCM5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes ?Meier-Gorlin syndrome 8 617564 Tags
Red Red List (low evidence)	PAX6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Red Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Not relevant to this panel Tags
Red Red List (low evidence)	SEMA3E	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Radboud University Medical Center, Nijmegen Phenotypes CHARGE syndrome 214800 Tags
Red Red List (low evidence)	TAF4B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Spermatogenic failure 13 615841 Tags
Red Red List (low evidence)	TWIST2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Phenotypes Barber-Say syndrome 209885 Focal facial dermal dysplasia 3, Setleis type 227260 Tags
Red Red List (low evidence)	WNT2B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Diarrhoea 9, OMIM:618168 46,XX testicular disorder of sex development, MONDO:0100249 Tags

Major version comments

2023-03-22 17:01 Sarah Leigh (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.

2022-11-30 15:21 Catherine Snow (Genomics England) 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)

2019-07-31 14:59 Ivone Leong (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.36) was signed off under NHS Genomic Medicine Service governance on (31/07/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

Promoted to V1 21/12/2016

Disorders of sex development (Version 4.4)

12 reviewers

69 Entities

69 reviewed, 46 green

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