Growth failure (Version 1.76)

Description

This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.

Consider applying this panel in individuals with:
 -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)
AND at least one of:
- History of small for gestational age (birth weight and/or length <-2SDS)
- Body disproportion, e.g. discrepancy between stature and head size
- Dysmorphic features and congenital anomalies
- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies
- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity

Prior to genomic testing consider:
-Chromosomal microarray analysis (e.g. Turner syndrome)
-Methylation analysis for Russell-Silver syndrome and Temple syndrome
-Skeletal survey

Acquired causes of short stature are relatively common.

Depending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.

With thanks to Genomics England for the original design of this panel.

Panel Activity

14 reviewers

Paul De Fazio (Victorian Clinical Genetics Services)
Danielle Ariti (University of Melbourne)
Anna Ritchie (Victorian Clinical Genetics Services)
Suliman Khan (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Lilian Downie (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Karina Sandoval (Victorian Clinical Genetics Services)
Santosh Varughese (University of Melbourne)
Krithika Murali (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

195 Entities

195 reviewed, 170 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 195 Entitiess
Green Green List (high evidence)	ACAN	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, MIM# 165800 Spondyloepimetaphyseal dysplasia, aggrecan type, MIM# 612813 Tags
Green Green List (high evidence)	ANAPC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368 Tags deep intronic
Green Green List (high evidence)	ANKRD11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes KBG syndrome, MIM# 148050 Tags
Green Green List (high evidence)	ANTXR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes GAPO syndrome, MIM# 230740 Tags
Green Green List (high evidence)	ATM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ataxia-telangiectasia, MIM# 208900 Tags
Green Green List (high evidence)	ATR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Seckel syndrome 1, MIM# 210600 Tags
Green Green List (high evidence)	ATRX	1 review 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 Genomics England PanelApp Phenotypes ATR-X-related syndrome MONDO:0016980 Tags
Green Green List (high evidence)	BAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Kury-Isidor syndrome , MIM#619762 Tags
Green Green List (high evidence)	BLM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Bloom syndrome, MIM# 210900 Tags
Green Green List (high evidence)	BRAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Noonan syndrome 7, MIM# 613706 Cardiofaciocutaneous syndrome, MIM# 115150 Tags
Green Green List (high evidence)	BRCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Fanconi anaemia, complementation group S, MIM# 617883 Tags
Green Green List (high evidence)	BRCA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group D1, MIM# 605724 Tags
Green Green List (high evidence)	BRD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cornelia de Lange syndrome, MONDO:0016033 Tags
Green Green List (high evidence)	BRIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group J, MIM# 609054 Tags
Green Green List (high evidence)	BTK	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200 Tags
Green Green List (high evidence)	BUB1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Mosaic variegated aneuploidy syndrome 1, MIM#257300 Tags
Green Green List (high evidence)	CBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563 CBL-related disorder, MONDO:0013308 Tags
Green Green List (high evidence)	CCDC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes 3-M syndrome 3, MIM# 614205 Tags
Green Green List (high evidence)	CDC45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Meier-Gorlin syndrome 7, MIM 617063 Tags
Green Green List (high evidence)	CDKN1C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Genomics England PanelApp Phenotypes IMAGe syndrome, MIM# 614732 Silver-Russell syndrome Tags
Green Green List (high evidence)	CDT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Meier-Gorlin syndrome 4, MIM# 613804 MONDO:0013431 Tags
Green Green List (high evidence)	CEP152	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Seckel syndrome 5, MIM# 613823 Tags
Green Green List (high evidence)	CEP295	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Seckel syndrome 11, OMIM # 620767 Tags
Green Green List (high evidence)	CEP57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Mosaic variegated aneuploidy syndrome 2, MIM#614114 Tags
Green Green List (high evidence)	CHD7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes CHARGE syndrome, MIM# 214800 Tags
Green Green List (high evidence)	COG4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Saul-Wilson syndrome, OMIM:618150 Microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407 Tags
Green Green List (high evidence)	CREBBP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Rubinstein-Taybi syndrome 1, MIM# 180849 Menke-Hennekam syndrome 1, MIM# 618332 Tags
Green Green List (high evidence)	CRIPT	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Short stature with microcephaly and distinctive facies (MIM#615789) Rothmund-Thomson syndrome MONDO:0010002 Tags
Green Green List (high evidence)	CUL7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes 3-M syndrome 1, MIM# 273750 Yakut short stature syndrome Tags
Green Green List (high evidence)	DDX11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Warsaw breakage syndrome, MIM# 613398 MONDO:0013252 Tags
Green Green List (high evidence)	DHCR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Smith-Lemli-Opitz syndrome, MIM#270400 Tags
Green Green List (high evidence)	DNA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Seckel syndrome 8, MIM:615807 Tags
Green Green List (high evidence)	DNMT3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860 Tags
Green Green List (high evidence)	DRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Tan-Almurshedi syndrome, MIM# 620641 Tags
Green Green List (high evidence)	EP300	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Rubinstein-Taybi syndrome 2, MIM# 613684 Menke-Hennekam syndrome , MIM#2 618333 Tags
Green Green List (high evidence)	ERCC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Cerebrooculofacioskeletal syndrome 2, MIM# 610756 Trichothiodystrophy 1, photosensitive, MIM# 601675 Tags
Green Green List (high evidence)	ERCC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Trichothiodystrophy 2, photosensitive, MIM# 616390 Xeroderma pigmentosum, group B 61, MIM#0651 Tags
Green Green List (high evidence)	ERCC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group Q, MIM# 615272 MONDO:0014108 XFE progeroid syndrome, MIM# 610965 MONDO:0012590 Tags
Green Green List (high evidence)	ERCC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696 Xeroderma pigmentosum, group G, MIM# 278780 MONDO:0010216 Tags
Green Green List (high evidence)	ERCC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Cerebrooculofacioskeletal syndrome 1, MIM# 214150 MONDO:0008955 Cockayne syndrome, type B, MIM# 133540 MONDO:0019570 Tags
Green Green List (high evidence)	ERCC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Cockayne syndrome, type A, MIM# 216400 MONDO:0019569 Tags
Green Green List (high evidence)	FAM111A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Kenny-Caffey syndrome, type 2, MIM@ 127000 Tags
Green Green List (high evidence)	FANCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group A, MIM# 227650 MONDO:0009215 Tags
Green Green List (high evidence)	FANCB	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group B, MIM# 300514 Tags
Green Green List (high evidence)	FANCC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group C, MIM# 227645 MONDO:0009213 Tags
Green Green List (high evidence)	FANCD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group D2, MIM# 227646 Tags
Green Green List (high evidence)	FANCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group E, MIM# 600901 MONDO:0010953 Tags
Green Green List (high evidence)	FANCF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group F 603467 MONDO:0011325 Tags
Green Green List (high evidence)	FANCG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group G, MIM# 614082 MONDO:0013565 Tags
Green Green List (high evidence)	FANCI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group I, MIM# 609053 MONDO:0012186 Tags
Green Green List (high evidence)	FANCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group L, MIM# 614083 MONDO:0013566 Tags
Green Green List (high evidence)	FGD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Aarskog-Scott syndrome, MIM # 305400 Tags
Green Green List (high evidence)	FGFR3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Hypochondroplasia, MIM#146000 Tags
Green Green List (high evidence)	FOSL2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Aplasia cutis-enamel dysplasia syndrome, MIM# 620789 Tags
Green Green List (high evidence)	FOXP4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Neurodevelopmental disorder multiple congenital abnormalities short stature Tags
Green Green List (high evidence)	FRA10AC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113 Tags
Green Green List (high evidence)	GH1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Growth hormone deficiency, isolated, type IA, MIM# 262400 Growth hormone deficiency, isolated, type II, MIM# 173100 Kowarski syndrome, MIM# 262650 Tags
Green Green List (high evidence)	GHR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Growth hormone insensitivity, partial, MIM# 604271 Laron dwarfism, MIM# 262500 Tags
Green Green List (high evidence)	GHRHR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Growth hormone deficiency, isolated, type IV, MIM# 618157 Tags
Green Green List (high evidence)	GINS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Meier-Gorlin syndrome, MONDO:0016817, GINS3-related Tags
Green Green List (high evidence)	GLI2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Culler-Jones syndrome, MIM#615849 Holoprosencephaly 9, MIM# 61082 Tags
Green Green List (high evidence)	GLI3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Pallister-Hall syndrome, MIM# 146510 Tags
Green Green List (high evidence)	GTF2H5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Trichothiodystrophy 3, photosensitive, MIM# 616395 MONDO:0014619 Tags
Green Green List (high evidence)	HDAC8	1 review 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 Genomics England PanelApp Phenotypes Cornelia de Lange syndrome 5, MIM# 300882 Tags
Green Green List (high evidence)	HEATR3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability Diamond-Blackfan anaemia 21, MIM# 620072 Tags
Green Green List (high evidence)	HESX1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Septooptic dysplasia, MIM# 182230 Growth hormone deficiency with pituitary anomalies, MIM#182230 Tags
Green Green List (high evidence)	HMGA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Silver-Russell syndrome 5, MIM# 618908 MONDO:0020795 Tags
Green Green List (high evidence)	HRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Costello syndrome, MIM# 218040 Tags
Green Green List (high evidence)	IGF1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747 Tags
Green Green List (high evidence)	IGF1R	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Insulin-like growth factor I, resistance to, MIM # 270450 Tags
Green Green List (high evidence)	IGF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Genomics England PanelApp Phenotypes Silver-Russell syndrome 3, MIM #616489 Tags
Green Green List (high evidence)	IGFALS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Acid-labile subunit, deficiency of, MIM# 615961 Tags
Green Green List (high evidence)	INSR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Leprechaunism, MIM# 246200 Rabson-Mendenhall syndrome, MIM# 262190 Tags
Green Green List (high evidence)	INTS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817 Tags
Green Green List (high evidence)	KANSL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Koolen-De Vries syndrome (MIM#610443) Tags SV/CNV
Green Green List (high evidence)	KDM3B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Diets-Jongmans syndrome, MIM# 618846 Intellectual disability short stature deafness Tags
Green Green List (high evidence)	KDM6A	1 review 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 Genomics England PanelApp Phenotypes Kabuki syndrome 2, MIM# 300867 Tags
Green Green List (high evidence)	KMT2A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Wiedemann-Steiner syndrome OMIM #605130 Tags
Green Green List (high evidence)	KMT2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Kabuki syndrome 1, MIM# 147920 KMT2D-associated neurodevelopmental syndrome Tags
Green Green List (high evidence)	KRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Noonan syndrome 3, MIM# 609942 Cardiofaciocutaneous syndrome 2, MIM# 615278 Tags
Green Green List (high evidence)	LARP7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Alazami syndrome, MIM# 615071 Microcephalic primordial dwarfism, Alazami type MONDO:0014031 Tags
Green Green List (high evidence)	LHX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pituitary hormone deficiency, combined, 3, MIM# 221750 Tags treatable
Green Green List (high evidence)	LHX4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Pituitary hormone deficiency, combined, 4, MIM# 262700 Tags treatable
Green Green List (high evidence)	LIG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Combined immunodeficiency Lymphopaenia Hypogammaglobulinaemia Recurrent bacterial and viral infections Growth retardation Sun sensitivity, radiation sensitivity Macrocytosis Tags
Green Green List (high evidence)	LIG4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes LIG4 syndrome, MIM# 606593 microcephaly, growth retardation, immunodeficiency, developmental delay Tags treatable
Green Green List (high evidence)	LZTR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Noonan syndrome 10 Noonan syndrome 2 Tags
Green Green List (high evidence)	MAP2K1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Cardiofaciocutaneous syndrome 3, MIM# 615279 Tags
Green Green List (high evidence)	MAP2K2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Cardiofaciocutaneous syndrome 4, MIM# 615280 Tags
Green Green List (high evidence)	MAPK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Noonan syndrome 13, MIM#619087 Tags
Green Green List (high evidence)	MPLKIP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Trichothiodystrophy 4, nonphotosensitive, MIM# 234050 MONDO:0021013 Tags
Green Green List (high evidence)	MRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Noonan syndrome 11, MIM#618499 Tags
Green Green List (high evidence)	MSTO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675 Tags
Green Green List (high evidence)	MTX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Mandibuloacral dysplasia growth retardation arterial calcification lipodystrophy Tags
Green Green List (high evidence)	NBAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800 Tags
Green Green List (high evidence)	NBN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Nijmegen breakage syndrome, MIM# 251260 MONDO:0009623 Tags
Green Green List (high evidence)	NHEJ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291 MONDO:0012650 Tags
Green Green List (high evidence)	NHLRC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278 Tags
Green Green List (high evidence)	NIPBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cornelia de Lange syndrome 1, MIM # 122470 Tags
Green Green List (high evidence)	NRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Noonan syndrome 6, MIM# 613224 Tags
Green Green List (high evidence)	OBSL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes 3-M syndrome 2, MIM #612921 Tags
Green Green List (high evidence)	ORC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Meier-Gorlin syndrome 1, MIM# 224690 MONDO:0009143 Tags
Green Green List (high evidence)	ORC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Meier-Gorlin syndrome 2, MIM# 613800 Tags
Green Green List (high evidence)	ORC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Meier-Gorlin syndrome 3, MIM# 613803 Tags
Green Green List (high evidence)	OTX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Pituitary hormone deficiency, combined, 6, MIM# 613986 Microphthalmia, syndromic 5, MIM# 610125 Tags
Green Green List (high evidence)	PALB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group N, MIM# 610832 Tags
Green Green List (high evidence)	PAPPA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Short stature, Dauber-Argente type, MIM#619489 Tags
Green Green List (high evidence)	PCDHGC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880 Tags
Green Green List (high evidence)	PCNT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720 MONDO:0008872 Tags
Green Green List (high evidence)	PIK3R1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes SHORT syndrome, OMIM # 269880 Tags
Green Green List (high evidence)	PITX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Axenfeld-Rieger syndrome, type 1, MIM# 180500 Tags
Green Green List (high evidence)	PLAG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Silver-Russell syndrome 4, MIM # 618907 Tags
Green Green List (high evidence)	PLK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Microcephaly and chorioretinopathy 2, MONDO:0014516 Microcephaly and chorioretinopathy, autosomal recessive, 2, #MIM:616171 Tags
Green Green List (high evidence)	PNPLA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Oliver-McFarlane syndrome, MIM# 275400 Laurence-Moon syndrome, MIM# 245800 Tags
Green Green List (high evidence)	POLE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes FILS syndrome, MIM# 615139 IMAGE-I syndrome, MIM# 618336 Tags deep intronic
Green Green List (high evidence)	POU1F1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pituitary hormone deficiency, combined, 1 MIM# 613038 pituitary hypoplasia severe growth failure combined GH, PRL and TSH deficiency distinct facial features (prominent forehead, mid-facial hypoplasia, depressed nasal bridge, deep-set eyes and a short nose with anteverted nostrils) Tags
Green Green List (high evidence)	PPP1CB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Noonan syndrome-like disorder with loose anagen hair 2 OMIM # 617506 Tags
Green Green List (high evidence)	PROP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pituitary hormone deficiency, combined, 2 MIM# 262600 Ateliotic dwarfism with hypogonadism growth failure short stature failure to thrive absent sexual development at puberty GH, PRL, TSH, LH, and FSH deficiency pituitary hypoplasia Tags
Green Green List (high evidence)	PTPN11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines) Noonan syndrome 1, MIM#163950 Tags
Green Green List (high evidence)	PUF60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Verheij syndrome, OMIM # 615583 Tags
Green Green List (high evidence)	RAD21	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cornelia de Lange syndrome 4, MIM # 614701 Tags
Green Green List (high evidence)	RAD50	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Nijmegen breakage syndrome-like disorder, MIM# 613078 MONDO:0013118 Tags
Green Green List (high evidence)	RAD51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Fanconi anaemia, complementation group R, MIM# 617244 Tags
Green Green List (high evidence)	RAD51C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Fanconi anaemia, complementation group O, MIM# 613390 Tags
Green Green List (high evidence)	RAF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Noonan syndrome 5, MIM# 611553 Tags
Green Green List (high evidence)	RECQL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Rothmund-Thomson syndrome, type 2, MIM# 268400 RAPADILINO syndrome, MIM# 266280 Baller-Gerold syndrome, MIM# 218600 Tags
Green Green List (high evidence)	RIT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Noonan syndrome 8, MIM# 615355 Tags
Green Green List (high evidence)	RNF113A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Phenotypes Trichothiodystrophy 5, nonphotosensitive OMIM #300953 Tags
Green Green List (high evidence)	RNF168	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes RIDDLE syndrome MIM# 611943 Radiosensitivity Immune Deficiency Dysmorphic Features Learning difficulties Low IgG or IgA Short stature mild defect of motor control to ataxia normal intelligence to learning difficulties mild facial dysmorphism to microcephaly Tags
Green Green List (high evidence)	RNPC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Growth hormone deficiency Intellectual disability Tags
Green Green List (high evidence)	RNU4ATAC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710) Roifman syndrome (MIM# 616651) Lowry-Wood syndrome, MIM# 226960 Tags non-coding gene
Green Green List (high evidence)	ROR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Robinow syndrome, autosomal recessive MIM# 268310 hypertelorism short stature mesomelic shortening of the limbs hypoplastic genitalia rib/vertebral anomalies abnormal morphogenesis of the face Tags
Green Green List (high evidence)	RPL10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Intellectual developmental disorder, X-linked, syndromic, 35 MIM# 300998 severe growth retardation intrauterine growth restriction short stature dysmorphic facial features (prognathism, dental crowding, thin upper lip) microcephaly seizures hypotonia genitourinary abnormalities cerebellar hypoplasia Tags
Green Green List (high evidence)	RPS6KA3	1 review 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 Genomics England PanelApp Phenotypes Coffin-Lowry syndrome MIM# 303600 Intellectual disability short stature delayed bone age hearing deficit hypotonia tapering fingers abnormal facies (hypertelorism, anteverted nares, prominent frontal region) Tags
Green Green List (high evidence)	RRAS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Noonan syndrome 12, MIM #618624 Tags
Green Green List (high evidence)	SAMD9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes MIRAGE syndrome, 617053 Tags
Green Green List (high evidence)	SBDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Shwachman-Diamond syndrome 1, MIM# 260400 Tags
Green Green List (high evidence)	SCUBE3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953 Tags
Green Green List (high evidence)	SHOC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Noonan syndrome-like with loose anagen hair 1, MIM# 607721 Tags
Green Green List (high evidence)	SHOX	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Langer mesomelic dysplasia, MIM# 249700 Leri-Weill dyschondrosteosis, MIM# 127300 Tags SV/CNV
Green Green List (high evidence)	SLF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Atelis syndrome 1, MIM# 620184 Tags
Green Green List (high evidence)	SLX4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group P, MIM# 613951 Tags
Green Green List (high evidence)	SMARCAL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Schimke immune-osseous dysplasia MIM# 242900 T cell deficiency Short stature IUGR spondyloepiphyseal dysplasia growth retardation renal dysfunction lymphocytopaenia nephropathy bacterial/viral/fungal infections may present as SCID bone marrow failure Tags
Green Green List (high evidence)	SMC1A	1 review 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 Genomics England PanelApp Phenotypes Cornelia de Lange syndrome 2, OMIM # 300590, MONDO:0010370 Tags
Green Green List (high evidence)	SMC3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cornelia de Lange syndrome 3, MIM# 610759 Tags
Green Green List (high evidence)	SMC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Atelis syndrome 2, MIM# 620185 Tags
Green Green List (high evidence)	SOS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Noonan syndrome 4, MIM# 610733 Tags
Green Green List (high evidence)	SOS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Noonan syndrome 9, MIM# 616559 Tags
Green Green List (high evidence)	SOX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Microphthalmia, syndromic 3, MIM# 206900 Tags
Green Green List (high evidence)	SPRED2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Noonan syndrome 14, MIM# 619745 Tags
Green Green List (high evidence)	SPRTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ruijs-Aalfs syndrome, MIM# 616200 MONDO:0014527 Tags
Green Green List (high evidence)	SRCAP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Floating-Harbor syndrome, OMIM # 136140 Tags
Green Green List (high evidence)	STAT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952 Lymphoproliferation solid organ autoimmunity growth failure recurrent infections short stature IUGR eczema delayed puberty dental abnormalities autoimmune interstitial lung disease juvenile-onset arthritis primary hypothyroidism Tags
Green Green List (high evidence)	STAT5B	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MIM# 245590 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, MIM# 618985 Tags
Green Green List (high evidence)	STT3A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Iw, AR, OMIM #615596 Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714 Tags
Green Green List (high evidence)	TBCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Kenny-Caffey syndrome, type 1, MIM# 244460 Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410, Sanjad-Sakati syndrome Tags
Green Green List (high evidence)	THUMPD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Syndromic disease, MONDO:0002254, THUMPD1-related Tags
Green Green List (high evidence)	TOP3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097 Tags
Green Green List (high evidence)	TRAIP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Seckel syndrome 9, MIM# 616777 Tags
Green Green List (high evidence)	TRIM37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Mulibery nanism, MIM#253250 Tags
Green Green List (high evidence)	TRIP13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Mosaic variegated aneuploidy syndrome 3, MIM# 617598 Tags founder
Green Green List (high evidence)	TRMT10A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033 MONDO:0000208 Tags
Green Green List (high evidence)	TRPS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Trichorhinophalangeal syndrome, type I, OMIM # 190350 Trichorhinophalangeal syndrome, type III, OMIM # 190351 Tags
Green Green List (high evidence)	UBE2T	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group T, MIM# 616435 Tags
Green Green List (high evidence)	UBR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Johanson-Blizzard syndrome, MIM# 243800 Tags
Green Green List (high evidence)	WBP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, WBP4-related Tags
Green Green List (high evidence)	WRN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Werner syndrome, MIM# 277700 MONDO:0010196 Tags
Green Green List (high evidence)	XRCC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Short stature, microcephaly, and endocrine dysfunction, MIM# 616541 MONDO:0014686 Tags
Green Green List (high evidence)	ZBTB24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069 MONDO:0013553 Tags
Green Green List (high evidence)	ZFP57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Diabetes mellitus, transient neonatal 1, MIM# 601410 Tags
Green Green List (high evidence)	ZNF699	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes DEGCAGS syndrome, MIM# 619488 Tags
Amber Amber List (moderate evidence)	CENPJ	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Seckel syndrome 4, MIM# 613676 Tags
Amber Amber List (moderate evidence)	DCAF15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related Tags
Amber Amber List (moderate evidence)	GHSR	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Growth hormone deficiency, isolated partial, MIM# 615925 Tags
Amber Amber List (moderate evidence)	NLRP2	1 review	Other	Sources Expert Review Amber Genomics England PanelApp Phenotypes Maternal effect gene- causing phenotypes that include IUGR Tags
Amber Amber List (moderate evidence)	NLRP5	1 review	Other	Sources Expert Review Amber Genomics England PanelApp Phenotypes Short stature Failure to thrive multilocus imprinting disturbances IUGR Tags
Amber Amber List (moderate evidence)	NLRP7	1 review	Other	Sources Expert Review Amber Genomics England PanelApp Phenotypes IUGR Tags
Amber Amber List (moderate evidence)	PADI6	1 review	Other	Sources Expert Review Amber Genomics England PanelApp Phenotypes IUGR Tags
Amber Amber List (moderate evidence)	RAP1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Genomics England PanelApp Phenotypes Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654 Tags
Amber Amber List (moderate evidence)	RBBP8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Seckel syndrome 2, MIM# 606744 Tags
Amber Amber List (moderate evidence)	TKT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Short stature, developmental delay, and congenital heart defects OMIM #617044 Tags
Amber Amber List (moderate evidence)	ZNF668	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194 Tags
Red Red List (low evidence)	ATRIP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Seckel-like syndrome Tags
Red Red List (low evidence)	CDC6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Meier-Gorlin syndrome 5 (MIM#613805) Tags
Red Red List (low evidence)	FANCM	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia Tags
Red Red List (low evidence)	GINS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Meier-Gorlin syndrome with craniosynostosis Tags
Red Red List (low evidence)	GPR161	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Pituitary stalk interruption syndrome Tags
Red Red List (low evidence)	H19	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Red Genomics England PanelApp Phenotypes Silver-Russell syndrome, MIM# 180860 Tags non-coding gene
Red Red List (low evidence)	IFT172	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes GH deficiency, retinopathy, metaphyseal dysplasia Tags
Red Red List (low evidence)	KHDC3L	1 review 1 red	Other	Sources Expert Review Red Genomics England PanelApp Phenotypes Silver-Russell syndrome Tags
Red Red List (low evidence)	MCM5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Meier-Gorlin syndrome 8 (MIM#617564) Tags
Red Red List (low evidence)	PROKR2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Hypogonadotropic hypogonadism 3 with or without anosmia MIM# 244200 Kallmann syndrome (KS) normosmic idiopathic hypogonadotropic hypogonadism (nIHH) Anosmia GnRH deficiency cleft lip and palate renal agenesis Hypogonadotropic hypogonadism low testosterone/ estradiol Absent/ partial Puberty Hearing loss Tags
Red Red List (low evidence)	SHOX2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Sinus Node Dysfunction Atrial Fibrillation Tags
Red Red List (low evidence)	SLC30A7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Ziegler-Huang syndrome, MIM# 620501 Tags
Red Red List (low evidence)	SOX3	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123 Panhypopituitarism, X-linked, MIM#312000 Tags SV/CNV
Red Red List (low evidence)	ZPR1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies, MIM# 619321 Tags founder

Major version comments

2021-09-03 03:51 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
Fully reviewed and promoted to V1.

Growth failure (Version 1.76)

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