The latest signed off version for the GMS is v1.0. The current version, shown here, may differ from the signed-off version.

Monogenic short stature (Version 1.31)

Level 2: Endocrinology

Relevant disorders: R453
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v1.0 (7 Aug 2024)

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 'R453 Monogenic short stature' 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 'R453 Monogenic short stature'.

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.

Panel Activity

20 reviewers

Ellen Thomas (Genomics England Curator)

Group: Other
Workplace: Other
Karen Temple (Wessex GMC)

Group: GeCIP domain
Workplace: NHS clinical service
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Karen Stals (Royal Devon and Exeter Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Konstantinos Varvagiannis (Other)

Group: Other
Workplace: Other clinical service
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
Dmitrijs Rots (Children's Clinical University Hospital)

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

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

Group: Other
Workplace: Other
Adam Gunning (Exeter Genomics Laboratory)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Melissa Connolly (WMRGL GLH)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)

Group: Other NHS organisation
Workplace: Other diagnostic lab
Suzanne Page (Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Ida Ertmanska (Genomics England Curator)

Group: Other
Workplace: Other

177 Entities

160 reviewed, 72 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 177 Entitiess
Green List (high evidence)	ACAN	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM:165800 (AD) ?Spondyloepiphyseal dysplasia, Kimberley type, OMIM:608361 (AD) Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM:612813 (AR) Tags
Green List (high evidence)	ANAPC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Rothmund Thomson syndrome type 1, OMIM:618625 Tags
Green List (high evidence)	ANKRD11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes KBG syndrome, OMIM:148050 Tags
Green List (high evidence)	BLM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Bloom syndrome, OMIM:210900 Tags
Green List (high evidence)	BRAF	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Cardiofaciocutaneous syndrome, OMIM:115150 LEOPARD syndrome 3, OMIM:613707 Noonan syndrome 7, OMIM:613706 Tags
Green List (high evidence)	BRCA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fanconi anemia, complementation group D1, OMIM:605724 Tags
Green List (high evidence)	BRIP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fanconi anemia, complementation group J, OMIM:609054 Tags
Green List (high evidence)	CBL	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563 Tags
Green List (high evidence)	CCDC8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 3-M syndrome 3, OMIM:614205 Tags
Green List (high evidence)	CDKN1C	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list Expert Review Green Phenotypes IMAGE syndrome, OMIM:614732 Tags
Green List (high evidence)	CEP57	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Mosaic variegated aneuploidy syndrome 2, OMIM:614114 Tags
Green List (high evidence)	COG4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Saul-Wilson syndrome, OMIM:618150 Tags
Green List (high evidence)	CUL7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 3-M syndrome 1, OMIM:273750 Tags
Green List (high evidence)	ERCC4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fanconi anemia, complementation group Q, OMIM:615272 Tags
Green List (high evidence)	FANCA	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fanconi anemia, complementation group A, OMIM:227650 Tags
Green List (high evidence)	FANCB	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 Green Phenotypes Fanconi anemia, complementation group B, OMIM:300514 Tags
Green List (high evidence)	FANCC	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fanconi anemia, complementation group C, OMIM:227645 Tags
Green List (high evidence)	FANCD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fanconi anemia, complementation group D2, OMIM:227646 Tags
Green List (high evidence)	FANCE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fanconi anemia, complementation group E, OMIM:600901 Tags
Green List (high evidence)	FANCF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fanconi anemia, complementation group F, OMIM:603467 Tags
Green List (high evidence)	FANCG	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fanconi anemia, complementation group G, OMIM:614082 Tags
Green List (high evidence)	FANCI	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fanconi anemia, complementation group I, OMIM:609053 Tags
Green List (high evidence)	FANCL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fanconi anemia, complementation group L, OMIM:614083 Tags
Green List (high evidence)	FBXO22	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Tayoun-Maawali syndrome, OMIM:621184 Tags
Green List (high evidence)	FGFR3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Hypochondroplasia, OMIM:146000 Crouzon syndrome with acanthosis nigricans, OMIM:612247 Thanatophoric dysplasia, type I, OMIM:187600 Thanatophoric dysplasia, type II, OMIM:187601 Tags
Green List (high evidence)	GH1	5 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Growth hormone deficiency, isolated, type IA, OMIM:262400 Growth hormone deficiency, isolated, type IB, OMIM:612781 Growth hormone deficiency, isolated, type II, OMIM:173100 Growth hormone deficiency Kowarski syndrome, OMIM:262650 Tags
Green List (high evidence)	GHR	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Laron dwarfism, OMIM:262500 Tags
Green List (high evidence)	HMGA2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Silver-Russell syndrome 5, OMIM:618908 Tags
Green List (high evidence)	HRAS	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Costello syndrome, OMIM:218040 Tags
Green List (high evidence)	IGF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Insulin-like growth factor I deficiency, OMIM:608747 Tags
Green List (high evidence)	IGF1R	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Insulin-like growth factor I, resistance to, OMIM:270450 Tags
Green List (high evidence)	IGF2	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert list Expert Review Green Phenotypes Silver-Russell syndrome 3, OMIM:616489 Tags
Green List (high evidence)	IGFALS	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Acid-labile subunit, deficiency of, OMIM:615961 short stature due to primary acid-labile subunit deficiency, MONDO:0014420 Tags
Green List (high evidence)	INTS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571 Tags
Green List (high evidence)	KRAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Cardiofaciocutaneous syndrome 2, OMIM:615278 Noonan syndrome 3, OMIM:609942 Tags
Green List (high evidence)	LZTR1	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Noonan syndrome 10, OMIM:616564 (AD) Noonan syndrome 2, OMIM:605275 (AR) Tags
Green List (high evidence)	MAP2K1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Cardiofaciocutaneous syndrome 3, OMIM:615279 Tags
Green List (high evidence)	MAP2K2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Cardiofaciocutaneous syndrome 4, OMIM:615280 Tags
Green List (high evidence)	MSTO1	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675 Tags
Green List (high evidence)	MTX2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Mandibuloacral dysplasia progeroid syndrome, OMIM:619127 Tags
Green List (high evidence)	NBAS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800 Tags
Green List (high evidence)	NBN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Nijmegen breakage syndrome, OMIM:251260 Tags
Green List (high evidence)	NHLRC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes FINCA syndrome, OMIM:618278 Tags gene-checked
Green List (high evidence)	NPR2	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Acromesomelic dysplasia 1, Maroteaux type, OMIM:602875 Tags
Green List (high evidence)	NRAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Noonan syndrome 6, OMIM:613224 Tags
Green List (high evidence)	OBSL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 3-M syndrome 2, OMIM:612921 Tags
Green List (high evidence)	PALB2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fanconi anemia, complementation group N, OMIM:610832 Tags
Green List (high evidence)	PIK3R1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes SHORT syndrome, OMIM:269880 Tags
Green List (high evidence)	PLAG1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Silver-Russell syndrome 4, OMIM:618907 Tags
Green List (high evidence)	PLK4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171 Tags
Green List (high evidence)	PPP1CB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Noonan syndrome-like disorder with loose anagen hair 2, OMIM:617506 Tags
Green List (high evidence)	PTPN11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes LEOPARD syndrome 1, OMIM:151100 Noonan syndrome 1, OMIM:163950 Tags
Green List (high evidence)	RAF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes LEOPARD syndrome 2, OMIM:611554 Noonan syndrome 5, OMIM:611553 Tags
Green List (high evidence)	RECQL4	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Rothmund-Thomson syndrome, type 2, OMIM:268400 Tags
Green List (high evidence)	RIT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Noonan syndrome 8, OMIM:615355 Tags
Green List (high evidence)	RRAS2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes Noonan syndrome 12, OMIM:618624 Tags
Green List (high evidence)	RSPRY1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723 Tags
Green List (high evidence)	SHOC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Noonan syndrome-like with loose anagen hair 1, OMIM:607721 Tags
Green List (high evidence)	SLC13A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes impaired sulfate transport and skeletal dysplasia Tags gene-checked
Green List (high evidence)	SLF2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Atelis syndrome 1, OMIM:620184 Tags
Green List (high evidence)	SLX4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fanconi anemia, complementation group P, OMIM:613951 Tags
Green List (high evidence)	SMC5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Atelis syndrome 2, OMIM:620185 Tags
Green List (high evidence)	SOS1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Noonan syndrome 4, OMIM:610733 Tags
Green List (high evidence)	SOS2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Noonan syndrome 9, OMIM:616559 Tags
Green List (high evidence)	SPOUT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154 Tags
Green List (high evidence)	SPRED2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Noonan syndrome 14, OMIM:619745 Tags
Green List (high evidence)	SRCAP	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Floating-Harbor syndrome, OMIM:136140 Tags
Green List (high evidence)	STAT5B	4 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985 Tags
Green List (high evidence)	TOP3A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, OMIM:618097 Tags
Green List (high evidence)	TRIM37	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mulibrey nanism, OMIM:253250 Tags
Green List (high evidence)	UBE2T	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fanconi anemia, complementation group T, OMIM:616435 Tags
Green List (high evidence)	ZFP57	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Diabetes mellitus, transient neonatal 1, OMIM:601410 Tags
Amber List (moderate evidence)	CCDC186	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes failure to thrive and developmental delay Tags watchlist
Amber List (moderate evidence)	FOXP4	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder multiple congenital abnormalities Tags gene-checked
Amber List (moderate evidence)	GGPS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518 Tags
Amber List (moderate evidence)	KDM3B	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Diets-Jongmans syndrome, OMIM:618846 Diets-Jongmans syndrome, MONDO:0030012 Tags watchlist
Amber List (moderate evidence)	LRRC8C	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes TIMES syndrome, OMIM:621056 Tags
Amber List (moderate evidence)	MAPK1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Noonan syndrome 13, OMIM:619087 Tags
Amber List (moderate evidence)	MRAS	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Noonan syndrome 11, OMIM:618499 Tags
Amber List (moderate evidence)	NF1	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes Neurofibromatosis-Noonan syndrome, OMIM:601321 Tags
Amber List (moderate evidence)	NLRP2	5 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Oocyte/zygote/embryo maturation arrest 18, OMIM:620332 oocyte/zygote/embryo maturation arrest 18, MONDO:0957230 Tags watchlist
Amber List (moderate evidence)	NLRP5	4 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Oocyte/zygote/embryo maturation arrest 19, OMIM:620333 oocyte/zygote/embryo maturation arrest 19, MONDO:0957231 Tags
Amber List (moderate evidence)	NLRP7	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes IUGR Short stature fetal wastage Multi Locus Imprinting Disturbance Hydatidiform mole, recurrent, 1 OMIM:231090 hydatidiform mole, recurrent, 1 MONDO:0009273 Tags
Amber List (moderate evidence)	PADI6	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Short stature IUGR miscarriages in the family Preimplantation embryonic lethality 2 OMIM:617234 preimplantation embryonic lethality 2 MONDO:0014978 Beckwith-Wiedemann syndrome Multi Locus Imprinting Disturbance Tags
Amber List (moderate evidence)	QSOX2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Maharaj Storr Syndrome Tags
Amber List (moderate evidence)	RAD51	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Fanconi anemia, complementation group R, OMIM:617244 Tags
Amber List (moderate evidence)	RAP1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Syndromic intellectual disability short stature Tags watchlist
Amber List (moderate evidence)	RASA2	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber NHS GMS Phenotypes Noonan syndrome Tags
Amber List (moderate evidence)	SETD5	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal dominant 23, OMIM:615761 Tags
Amber List (moderate evidence)	SHOX	5 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Langer mesomelic dysplasia, OMIM:249700 (PR) Leri-Weill dyschondrosteosis, OMIM:127300 (PD) Short stature, idiopathic familial, OMIM:300582 Tags Pseudoautosomal region 1 technical-limitations
Amber List (moderate evidence)	VPS50	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685 Tags watchlist
Amber List (moderate evidence)	ZNF668	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, OMIM:620194 Tags watchlist
Red List (low evidence)	A2ML1	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red NHS GMS Phenotypes Noonan syndrome Tags
Red List (low evidence)	ATRIP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Microcephalic primordial dwarfism Microcephaly, micrognathia, small ear lobes, dental crowding Tags
Red List (low evidence)	ATRX	0 reviews	Unknown	Sources Expert Review Red Phenotypes SGA, which is sometimes called intrauterine growth restriction (IUGR), Tags
Red List (low evidence)	BTK	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes Isolated growth hormone deficiency, type III, with agammaglobulinaemia, OMIM:307200 Tags disputed
Red List (low evidence)	CDC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Meier-Gorlin syndrome 5, OMIM:613805 patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia Tags
Red List (low evidence)	CDT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Meier-Gorlin syndrome 4, OMIM:613804 Tags
Red List (low evidence)	CENPJ	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes seckel syndrome Tags new-gene-name
Red List (low evidence)	CHD7	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes CHARGE syndrome - ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogenital anomalies, and growth retardation CHARGE syndrome, 214800 Tags
Red List (low evidence)	COL1A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Phenotypes OI Osteogenesis imperfecta, type II, 166210 Osteogenesis imperfecta, type III, 259420 Osteogenesis imperfecta, type I, 166200 Osteogenesis imperfecta, type IV, 166220 Tags
Red List (low evidence)	CREBBP	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Rubenstein Taybi Tags
Red List (low evidence)	CRIPT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis (staring look), upturned nostrils, and hypoplastic terminal phalanges with brachydactyly Tags
Red List (low evidence)	DHCR7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Smith Lemli Opitz Tags
Red List (low evidence)	DNA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Seckel syndrome 8, OMIM:615807 Tags
Red List (low evidence)	DOK7	0 reviews	Unknown	Sources Expert Review Red Phenotypes Myasthenia, limb-girdle, familial, 254300Fetal akinesia deformation sequence, 208150 Tags
Red List (low evidence)	EP300	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Rubenstein Taybi Tags
Red List (low evidence)	EPHX1	0 reviews	Unknown	Sources Expert Review Red Phenotypes ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800 Tags
Red List (low evidence)	ERCC6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Cockayne syndrome, type B, 133540 Tags
Red List (low evidence)	ERCC8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes cockayne Tags
Red List (low evidence)	FANCM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Fanconi anemia, complementation group M, 614087 Tags
Red List (low evidence)	FGD1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes Aarskog Tags
Red List (low evidence)	FGF8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes hypopituitarism, absent corpus callosum, Holoprosencephaly, Moebius syndrome, craniofacial defects, high arched palate, maxillary hypoplasia, microcepahly, spastic diplegia Tags
Red List (low evidence)	FGFR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Tags
Red List (low evidence)	GAP43	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags
Red List (low evidence)	GHRHR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Growth hormone deficiency Tags
Red List (low evidence)	GHSR	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Idiopathic short stature, GH deficiency Tags
Red List (low evidence)	GINS2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Meier-Gorlin syndrome like Meier-Gorlin syndrome, MONDO:0016817 Tags
Red List (low evidence)	GINS3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Meier-Gorlin syndrome like Meier-Gorlin syndrome, MONDO:0016817 Tags gene-checked
Red List (low evidence)	GLI2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Holoprosencephaly, hypopituitarism Tags
Red List (low evidence)	GLI3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Pallister-Hall syndrome, OMIM:146510 Tags
Red List (low evidence)	GPR161	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Short stature with hypopituitarism, intellectual disability, sparse or absent hair in the frontal area, hypotelorism, broad nasal root, thick alae nasi, nail hypoplasia, short fifth finger, 2-3 toe syndactyl. MRI showed hypoplastic pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pituitary stalk Tags
Red List (low evidence)	H19	0 reviews	Other	Sources Expert Review Red Phenotypes Russell-Silver syndrome Tags locus-type-rna-long-non-coding
Red List (low evidence)	HDAC8	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 Cornelia De Lange Tags
Red List (low evidence)	HESX1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Growth hormone deficiency with pituitary anomalies, OMIM:182230 Pituitary hormone deficiency, combined, 5, OMIM:182230 Septooptic dysplasia, OMIM:182230 Tags
Red List (low evidence)	IFT172	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes GH deficiency, retinopathy, metaphyseal dysplasia Tags
Red List (low evidence)	IGFBP1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Silver-Russell Syndrome Tags
Red List (low evidence)	IGFBP3	0 reviews	Unknown	Sources Expert Review Red Phenotypes Silver Russell Syndrome Tags
Red List (low evidence)	INSR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Leprechaunism Tags
Red List (low evidence)	INTS8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572 Tags
Red List (low evidence)	7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss ISCA-37392-Loss Region	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Red Phenotypes Williams-Beuren syndrome, OMIM:194050 Tags
Red List (low evidence)	22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Loss ISCA-37397-Loss Region	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Red Phenotypes Chromosome 22q11.2 deletion syndrome, distal, OMIM:611867 Tags
Red List (low evidence)	16p13.3 region (includes CREBBP) Loss ISCA-37406-Loss Region	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Red Phenotypes Chromosome 16p13.3 deletion syndrome, OMIM:610543 Tags
Red List (low evidence)	17q21.3 recurrent region (includes KANSL1) Loss ISCA-37420-Loss Region	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Red Phenotypes Koolen-De Vries syndrome, OMIM:610443 Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature Tags
Red List (low evidence)	4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss ISCA-37429-Loss Region	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Red Phenotypes Wolf-Hirschhorn syndrome, OMIM:194190 Tags
Red List (low evidence)	KDM6A	4 reviews	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 Kabuki syndrome 2, OMIM:300867 Tags
Red List (low evidence)	KHDC3L	2 reviews 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes IUGR Failure to thrive Hydatidiform mole, recurrent, 2 OMIM:614293 hydatidiform mole, recurrent, 2 MONDO:0013671 pregnancy loss Tags watchlist
Red List (low evidence)	KMT2D	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Phenotypes Kabuki syndrome 1, OMIM:147920 Tags
Red List (low evidence)	LHX3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes GH, TSH, LH, FSH, PRL deficiencies Tags
Red List (low evidence)	LHX4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes hypopituitarism Tags
Red List (low evidence)	LIG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes immunodeficiency, sun sensitivity, growth reatrdation Tags
Red List (low evidence)	LIG4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes LIG4 syndrome, OMIM:606593 microcephaly, growth retardation, immunodeficiency, developmental delay Tags
Red List (low evidence)	MCM5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Meier-Gorlin syndrome 8 Tags
Red List (low evidence)	NIPBL	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Cornelia De Lange Tags
Red List (low evidence)	ORC1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Meier-Gorlin syndrome 1, OMIM:224690 Tags
Red List (low evidence)	ORC4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Meier-Gorlin syndrome 2, OMIM:613800 Tags
Red List (low evidence)	ORC6	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Meier-Gorlin syndrome 3, OMIM:613803 Tags
Red List (low evidence)	OTX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Microcephaly, bilateral anopthalmia, developmental delay, cleft palate Tags
Red List (low evidence)	PAPPA2	7 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Short stature, Dauber-Argente type, OMIM:619489 Tags gene-checked to_be_confirmed_NHSE
Red List (low evidence)	PCNT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720 Tags
Red List (low evidence)	PITX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes AXENFELD-RIEGER SYNDROME Tags
Red List (low evidence)	PNPLA6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Oliver-Mcfarlane syndrome, Trichomegaly, GH deficiency, retinal dystrophy, hypogonadotrophic hypogonadism Tags
Red List (low evidence)	POU1F1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038 Variable degree of TSH deficiency Tags
Red List (low evidence)	PROKR2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes hypopituitarism, Hypoplastic corpus callosum, normal or small anterior pituitary, Club foot, syrinx spinal cord, microcephaly, epilepsy Tags
Red List (low evidence)	PROP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Pituitary hormone deficiency, combined Tags
Red List (low evidence)	RAD21	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Cornelia de Lange syndrome 4, OMIM:614701 Tags
Red List (low evidence)	RAPSN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Fetal akinesia deformation sequence 2, OMIM:618388 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326 Tags
Red List (low evidence)	RBBP8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes seckel syndrome but with proportionate head/height impairment, cafe au lair macules Tags
Red List (low evidence)	RNPC3	6 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160 Tags gene-checked
Red List (low evidence)	RNU4ATAC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Lowry-Wood syndrome, OMIM:226960 Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710 Tags locus-type-rna-small-nuclear
Red List (low evidence)	ROR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Robinow syndrome, autosomal recessive, OMIM:268310 Tags
Red List (low evidence)	RPL10	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes Mental retardation, X-linked, syndromic, 35 Tags
Red List (low evidence)	RPS6KA3	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 Coffin Lowry Tags
Red List (low evidence)	RREB1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes RASopathy, MONDO:0021060 Tags
Red List (low evidence)	SAMD9	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes MIRAGE syndrome, 617053 Tags missense
Red List (low evidence)	SHOX2	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	SMARCAL1	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	SMC1A	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 Cornelia de Lange syndrome 2, OMIM:300590 Cornelia de Lange syndrome 2, MONDO:0010370 Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044 Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 Tags
Red List (low evidence)	SMC3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Cornelia De Lange Tags
Red List (low evidence)	SOX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Tags
Red List (low evidence)	SOX3	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 Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123 Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252 Panhypopituitarism, X-linked, OMIM:312000 Panhypopituitarism, X-linked, MONDO:0010712 Tags
Red List (low evidence)	SPRED1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Legius Syndrome Neurofibromatosis-like syndrome Tags
Red List (low evidence)	TBCE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red List (low evidence)	THRB	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	WRN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Werner syndrome Tags
Red List (low evidence)	XRCC4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Short stature, microcephaly, and endocrine dysfunction, OMIM:616541 Tags
Red List (low evidence)	ZPR1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 Tags founder-effect

Major version comments

2024-08-07 16:30 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 1.0
The content of this panel has been produced in agreement with the NHS Genomic Medicine Service. The panel was promoted to the first major version (1.0) following this.

Monogenic short stature (Version 1.31)

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