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.

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
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

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