Description
IUGR inclusion criteria (29416)
- Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile) AND
- At least one of:
  - being born small for gestational (birth weight and/or length <-2SDS), ± a history of intra-uterine growth restriction
  - Body disproportion - e.g. discrepancy between stature and head size, limb to spine disproportion, limb asymmetry
  - Dysmorphic features e.g. facial dysmorphism, polydactyly/syndactyly, ear abnormalities
  - Aberration in the GH-IGF axis (evidence of GH insensitivity or deficiency)
  - Other pituitary hormonal deficiencies
  - Family history (short stature that is explained or idiopathic in parents, affected siblings,cousins) and/or consanguinity
  - Other features such as cleft palate, hearing loss, visual impairment with eye abnormalities including anophthalmia/microphthalmia, optic nerve hypoplasia, retinal dystrophy, forebrain abnormalities and learning difficulties
- For all patients with no abnormalities of the GH-IGF-I axis classified as Idiopathic Short Stature or who are small for gestational age with failure of catch up growth, a skeletal survey should be performed.

IUGR exclusion criteria (29416)
- Acquired causes of short stature, e.g. autoimmune, intracranial neoplasia, infective causes such as Group B Streptococcal meningitis, Langerhans cell Histiocytosis, trauma, previous treatment for malignancy including irradiation, exogenous glucocorticoid use, psychosocial growth failure, chronic disease
- Syndromes associated with short stature such as Turner syndrome, Noonan syndrome, Down syndrome, other chromosomal disorders. However, if the patient has a clinical diagnosis of, e.g. Noonan syndrome, and testing of known genes associated with the syndrome has not identified a pathogenic mutation, then they should be included in the 100000 genomes study. 
- Foetal alcohol syndrome 
- Genetically proven skeletal dysplasias such as hypochondroplasia or achondroplasia
- Genetically proven Silver-Russell syndrome

Prior genetic testing guidance (29416)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

IUGR prior genetic testing genes (29416)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - All patients with short stature and other features such as developmental delay and dysmorphism should have a DNA microarray with no pathogenic copy number variants detected prior to enrolment
  - Additional genetic testing should have been performed as appropriate

Closing statement (29416)
These requirements will be kept under continual review during the main programme and may be subject to change.

10 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Mehul Dattani (UCL Institute of Child Health)

    Group: GeCIP domain
    Workplace: Research lab

  • Peter Clayton (University of Manchester)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Philip Murray (University of Manchester)

    Group: GeCIP domain
    Workplace: Research lab

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • emma baple (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

114 Entities

107 reviewed, 89 green

List Entity Reviews Mode of inheritance Details
114 Entitiess
Green Green List (high evidence)
7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss
ISCA-37392-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • 194050
  • Williams syndrome
Tags
Green Green List (high evidence)
22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Loss
ISCA-37397-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • diaphragmatic hernia
  • mild skeletal abnormalities
  • uterine didelphys
  • 611867
  • DiGeorge syndrome (DGS)
  • clinodactyly
  • velocardiofacial syndrome
  • ADHD
  • Goldenhar syndrome
  • prematurity
  • developmental delay
  • micropephaly
  • cardiovascular defects
  • Seizures
  • global developmental delay
  • language delay
  • prenatal and postnatal growth delay
  • Hyptonia
Tags
Green Green List (high evidence)
16p13.3 region (includes CREBBP) Loss
ISCA-37406-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes
  • 610543
Tags
Green Green List (high evidence)
17q21.3 recurrent region (includes KANSL1) Loss
ISCA-37420-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies
  • 610443
  • PMID: 25217958
  • Koolen-De Vries syndrome 610443
Tags
Green Green List (high evidence)
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
ISCA-37429-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • 194190
  • Wolf-Hirschhorn syndrome
Tags
Green Green List (high evidence)
ANKRD11
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • KBG syndrome
  • 148050
Tags
Green Green List (high evidence)
BLM
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Bloom syndrome, 210900
Tags
Green Green List (high evidence)
BRAF
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiofaciocutaneous syndrome
Tags
Green Green List (high evidence)
CBL
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA
Tags
Green Green List (high evidence)
CCDC8
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 3-M syndrome 3, 614205
Tags
Green Green List (high evidence)
CDC6
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia
Tags
Green Green List (high evidence)
CDKN1C
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies
Tags
Green Green List (high evidence)
CDT1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia
Tags
Green Green List (high evidence)
CENPJ
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • seckel syndrome
Tags
Green Green List (high evidence)
CHD7
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CHARGE syndrome - ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogenital anomalies, and growth retardation
  • CHARGE syndrome, 214800
Tags
Green Green List (high evidence)
CREBBP
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Rubenstein Taybi
Tags
Green Green List (high evidence)
CRIPT
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis (staring look), upturned nostrils, and hypoplastic terminal phalanges with brachydactyly
Tags
Green Green List (high evidence)
CUL7
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • 3-M syndrome 1, 273750
Tags
Green Green List (high evidence)
DHCR7
4 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Smith Lemli Opitz
Tags
Green Green List (high evidence)
EP300
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Rubenstein Taybi
Tags
Green Green List (high evidence)
ERCC6
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Cockayne syndrome, type B, 133540
Tags
Green Green List (high evidence)
ERCC8
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • cockayne
Tags
Green Green List (high evidence)
FANCA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert review
  • Literature
Phenotypes
  • pre- and postnatal growth retardation
  • malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii)
  • a typical facial appearance with small head, eyes, and mouth
  • hearing loss
  • hypogonadism and reduced fertility
  • cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots)
  • bone marrow failure
  • and susceptibility to cancer, predominantly acute myeloid leukemia.
  • Fanconi Anemia
  • Fanconi anemia, complementation group A, 227650
  • Fanconi anemia
Tags
Green Green List (high evidence)
FANCB
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert review
Phenotypes
  • Fanconi anemia
  • Fanconi anemia, complementation group B, 300514
  • Fanconi Anemia, X-Linked
  • VACTERL Association with Hydrocephalus
Tags
Green Green List (high evidence)
FANCC
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert review
  • Literature
Phenotypes
  • pre- and postnatal growth retardation
  • malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii)
  • a typical facial appearance with small head, eyes, and mouth
  • hearing loss
  • hypogonadism and reduced fertility
  • cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots)
  • bone marrow failure
  • and susceptibility to cancer, predominantly acute myeloid leukemia.
  • Fanconi Anemia
  • Fanconi anemia, complementation group C, 227645
  • Fanconi anemia
Tags
Green Green List (high evidence)
FANCD2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert review
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group D2, 227646
  • Fanconi anemia
Tags
Green Green List (high evidence)
FANCE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert review
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group E, 600901
  • Fanconi anemia
Tags
Green Green List (high evidence)
FANCF
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert review
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group F, 603467
  • Fanconi anemia
Tags
Green Green List (high evidence)
FANCG
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Expert review
  • Literature
Phenotypes
  • pre- and postnatal growth retardation
  • malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii)
  • a typical facial appearance with small head, eyes, and mouth
  • hearing loss
  • hypogonadism and reduced fertility
  • cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots)
  • bone marrow failure
  • and susceptibility to cancer, predominantly acute myeloid leukemia.
  • Fanconi Anemia
  • Fanconi anemia, complementation group G, 614082
  • Fanconi anemia
  • Fanconi anemia complementation group G
Tags
Green Green List (high evidence)
FANCI
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert review
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group I, 609053
  • Fanconi anemia
Tags
Green Green List (high evidence)
FANCL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert review
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group L, 614083
  • Fanconi anemia
Tags
Green Green List (high evidence)
FGD1
3 reviews
3 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Aarskog
Tags
Green Green List (high evidence)
FGF8
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • hypopituitarism, absent corpus callosum, Holoprosencephaly, Moebius syndrome, craniofacial defects, high arched palate, maxillary hypoplasia, microcepahly, spastic diplegia
Tags
Green Green List (high evidence)
FGFR1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Tags
Green Green List (high evidence)
GH1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Growth hormone deficiency
Tags
Green Green List (high evidence)
GHR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Laron syndrome
Tags
Green Green List (high evidence)
GHRHR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Growth hormone deficiency
Tags
Green Green List (high evidence)
GLI2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Holoprosencephaly, hypopituitarism
Tags
Green Green List (high evidence)
GLI3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pallister-Hall syndrome
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
  • Other
Phenotypes
  • Cornelia De Lange
Tags
Green Green List (high evidence)
HESX1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Septo-optic dysplasia
  • variable involvement of pituitary hormones
Tags
Green Green List (high evidence)
HRAS
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Costello syndrome
Tags
Green Green List (high evidence)
IGF1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747
  • Insulin-Like Growth Factor I Deficiency
Tags
Green Green List (high evidence)
IGF1R
3 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Insulin‐likegrowthfactorI,resistanceto,270450
  • Insulin-Like Growth Factor I Resistance
Tags
Green Green List (high evidence)
IGFALS
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Short stature
  • delayed puberty
  • very low IGF-I levels
Tags
Green Green List (high evidence)
INSR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Leprechaunism
Tags
Green Green List (high evidence)
KDM6A
2 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Kabuki
Tags
Green Green List (high evidence)
KMT2D
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Kabuki
Tags
Green Green List (high evidence)
KRAS
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Rasopathy
Tags
Green Green List (high evidence)
LHX3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • GH, TSH, LH, FSH, PRL deficiencies
Tags
Green Green List (high evidence)
LHX4
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • hypopituitarism
Tags
Green Green List (high evidence)
LIG4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • microcephaly, growth retardation, immunodeficiency, developmental delay
Tags
Green Green List (high evidence)
MAP2K1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiofaciocutaneous syndrome
Tags
Green Green List (high evidence)
MAP2K2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiofaciocutaneous syndrome
Tags
Green Green List (high evidence)
NBN
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Nijmegen breakage syndrome
Tags
Green Green List (high evidence)
NIPBL
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Cornelia De Lange
Tags
Green Green List (high evidence)
NRAS
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.)
Tags
Green Green List (high evidence)
OBSL1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 3-M syndrome 2, 612921
Tags
Green Green List (high evidence)
ORC1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • microtia, beaked nose, patellar aplasia/hypoplasia, mammary hypoplasia, micrognathia
Tags
Green Green List (high evidence)
ORC4
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia
Tags
Green Green List (high evidence)
ORC6
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia
Tags
Green Green List (high evidence)
OTX2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly, bilateral anopthalmia, developmental delay, cleft palate
Tags
Green Green List (high evidence)
PAPPA2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density
Tags
Green Green List (high evidence)
PCNT
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance
Tags
Green Green List (high evidence)
PIK3R1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • SHORT syndrome
Tags
Green Green List (high evidence)
PITX2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • AXENFELD-RIEGER SYNDROME
Tags
Green Green List (high evidence)
PNPLA6
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oliver-Mcfarlane syndrome, Trichomegaly, GH deficiency, retinal dystrophy, hypogonadotrophic hypogonadism
Tags
Green Green List (high evidence)
POU1F1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • GH, PRL deficiencies
  • variable degree of TSH deficiency
Tags
Green Green List (high evidence)
PROKR2
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • hypopituitarism, Hypoplastic corpus callosum, normal or small anterior pituitary, Club foot, syrinx spinal cord, microcephaly, epilepsy
Tags
Green Green List (high evidence)
PROP1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Pituitary hormone deficiency, combined
Tags
Green Green List (high evidence)
PTPN11
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Tags
Green Green List (high evidence)
RAD21
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Other
Phenotypes
  • Cornelia De Lange
Tags
Green Green List (high evidence)
RAF1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Rasopathy
Tags
Green Green List (high evidence)
RBBP8
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • seckel syndrome but with proportionate head/height impairment, cafe au lair macules
Tags
Green Green List (high evidence)
RIT1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rasopathy
Tags
Green Green List (high evidence)
RNU4ATAC
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MOPD I
Tags
  • locus-type-rna-small-nuclear
Green Green List (high evidence)
ROR2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Robinow
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
  • Literature
Phenotypes
  • Mental retardation, X-linked, syndromic, 35 300998
Tags
Green Green List (high evidence)
RPS6KA3
2 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Coffin Lowry
Tags
Green Green List (high evidence)
SAMD9
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MIRAGE syndrome, 617053
Tags
  • missense
Green Green List (high evidence)
SHOC2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Other
Phenotypes
  • Noonan with loss of anagen hair
Tags
Green Green List (high evidence)
SHOX
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Tags
Green Green List (high evidence)
SMC1A
2 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Cornelia De Lange
Tags
Green Green List (high evidence)
SMC3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Cornelia De Lange
Tags
Green Green List (high evidence)
SOS1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Rasopathy
Tags
Green Green List (high evidence)
SOX2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Tags
Green Green List (high evidence)
SOX3
4 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Panhypopituitarism, X-linked, 312000
  • Mental retardation, X-linked, with isolated growth hormone deficiency, 300123
Tags
Green Green List (high evidence)
SRCAP
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Floating-Harbor syndrome, 136140
Tags
Green Green List (high evidence)
STAT5B
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Tags
Green Green List (high evidence)
TBCE
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Tags
Green Green List (high evidence)
TRIM37
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Mulibery Nanism
Tags
Green Green List (high evidence)
WRN
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Werner syndrome
Tags
Green Green List (high evidence)
XRCC4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism
Tags
Green Green List (high evidence)
ZFP57
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Phenotypes consistent with hypomethylation at multiple imprinted loci
Tags
Red Red List (low evidence)
ACAN
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • short stature, accelerated bone maturation, Spondyloepiphyseal dysplasia, early onset osteoarthritis
Tags
Red Red List (low evidence)
ATRIP
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • microcephaly, micrognathia, small ear lobes, dental crowding
Tags
Red Red List (low evidence)
ATRX
4 reviews
3 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • SGA, which is sometimes called intrauterine growth restriction (IUGR),
Tags
Red Red List (low evidence)
BTK
4 reviews
3 green
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Tags
Red Red List (low evidence)
DNA2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • seckel syndrome
Tags
Red Red List (low evidence)
DOK7
4 reviews
3 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myasthenia, limb-girdle, familial, 254300Fetal akinesia deformation sequence, 208150
Tags
Red Red List (low evidence)
EPHX1
3 reviews
3 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800
Tags
Red Red List (low evidence)
FANCM
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert review
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group M, 614087
  • Fanconi anemia
Tags
  • drug-toxicity
Red Red List (low evidence)
GHSR
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • Literature
Phenotypes
  • Idiopathic short stature, GH deficiency
Tags
Red Red List (low evidence)
GPR161
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • Literature
Phenotypes
  • Short stature with hypopituitarism, intellectual disability, sparse or absent hair in the frontal area, hypotelorism, broad nasal root, thick alae nasi, nail hypoplasia, short fifth finger, 2-3 toe syndactyl. MRI showed hypoplastic pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pituitary stalk
Tags
Red Red List (low evidence)
H19
2 reviews
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Russell-Silver syndrome
Tags
  • locus-type-rna-long-non-coding
Red Red List (low evidence)
IFT172
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • Literature
Phenotypes
  • GH deficiency, retinopathy, metaphyseal dysplasia
Tags
Red Red List (low evidence)
IGF2
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review
  • Expert Review Red
  • Literature
Phenotypes
  • Pre- and post-natal growth failure
  • Silver-Russell phenptype
  • IUGR
Tags
  • watchlist
Red Red List (low evidence)
LIG1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • immunodeficiency, sun sensitivity, growth reatrdation
Tags
Red Red List (low evidence)
MCM5
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • ?Meier-Gorlin syndrome 8 617564
Tags
Red Red List (low evidence)
RAPSN
4 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fetal Akinesia Deformation Sequence
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptordeficiency, 608931Fetal akinesia deformation sequence, 208150
Tags
Red Red List (low evidence)
RNPC3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • isolated growth hormone deficiency
Tags
Red Red List (low evidence)
SHOX2
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Tags
Red Red List (low evidence)
SMARCAL1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Tags
Red Red List (low evidence)
THRB
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Tags

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