Description
This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R147 Growth failure in early childhood' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R147 Growth failure in early childhood'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

This panel has been initially created as a merge of genomic entities from the following 2 panels:

- IUGR and IGF abnormalities (code 131, Version 1.25)
- Silver Russell syndrome (code 199, Version 1.3)

116 Entities

0 reviewed, 89 green

List Entity Reviews Mode of inheritance Details
116 Entitiess
Green Green List (high evidence)
ANKRD11
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • 148050
  • KBG syndrome
Tags
Green Green List (high evidence)
BLM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bloom syndrome, 210900
Tags
Green Green List (high evidence)
BRAF
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Cardiofaciocutaneous syndrome
Tags
Green Green List (high evidence)
CBL
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA
Tags
Green Green List (high evidence)
CCDC8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-M syndrome 3, 614205
Tags
Green Green List (high evidence)
CDC6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia
Tags
Green Green List (high evidence)
CDKN1C
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
Phenotypes
  • Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies
Tags
Green Green List (high evidence)
CDT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia
Tags
Green Green List (high evidence)
CENPJ
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • seckel syndrome
Tags
Green Green List (high evidence)
CHD7
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
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
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Rubenstein Taybi
Tags
Green Green List (high evidence)
CRIPT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-M syndrome 1, 273750
Tags
Green Green List (high evidence)
DHCR7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Smith Lemli Opitz
Tags
Green Green List (high evidence)
EP300
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Rubenstein Taybi
Tags
Green Green List (high evidence)
ERCC6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cockayne syndrome, type B, 133540
Tags
Green Green List (high evidence)
ERCC8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • cockayne
Tags
Green Green List (high evidence)
FANCA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots)
  • pre- and postnatal growth retardation
  • Fanconi anemia
  • hearing loss
  • a typical facial appearance with small head, eyes, and mouth
  • and susceptibility to cancer, predominantly acute myeloid leukemia.
  • Fanconi Anemia
  • Fanconi anemia, complementation group A, 227650
  • bone marrow failure
  • malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii)
  • hypogonadism and reduced fertility
Tags
Green Green List (high evidence)
FANCB
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group B, 300514
  • Fanconi Anemia, X-Linked
  • VACTERL Association with Hydrocephalus
  • Fanconi anemia
Tags
Green Green List (high evidence)
FANCC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots)
  • pre- and postnatal growth retardation
  • Fanconi anemia
  • hearing loss
  • a typical facial appearance with small head, eyes, and mouth
  • and susceptibility to cancer, predominantly acute myeloid leukemia.
  • Fanconi Anemia
  • Fanconi anemia, complementation group C, 227645
  • bone marrow failure
  • malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii)
  • hypogonadism and reduced fertility
Tags
Green Green List (high evidence)
FANCD2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group D2, 227646
  • Fanconi Anemia
  • Fanconi anemia
Tags
Green Green List (high evidence)
FANCE
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group E, 600901
  • Fanconi Anemia
  • Fanconi anemia
Tags
Green Green List (high evidence)
FANCF
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group F, 603467
  • Fanconi Anemia
  • Fanconi anemia
Tags
Green Green List (high evidence)
FANCG
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots)
  • pre- and postnatal growth retardation
  • Fanconi anemia
  • hearing loss
  • Fanconi anemia, complementation group G, 614082
  • a typical facial appearance with small head, eyes, and mouth
  • and susceptibility to cancer, predominantly acute myeloid leukemia.
  • Fanconi Anemia
  • Fanconi anemia complementation group G
  • bone marrow failure
  • malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii)
  • hypogonadism and reduced fertility
Tags
Green Green List (high evidence)
FANCI
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group I, 609053
  • Fanconi Anemia
  • Fanconi anemia
Tags
Green Green List (high evidence)
FANCL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group L, 614083
  • Fanconi Anemia
  • Fanconi anemia
Tags
Green Green List (high evidence)
FGD1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Aarskog
Tags
Green Green List (high evidence)
FGF8
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
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
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GH1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Growth hormone deficiency
Tags
Green Green List (high evidence)
GHR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Laron syndrome
Tags
Green Green List (high evidence)
GHRHR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Growth hormone deficiency
Tags
Green Green List (high evidence)
GLI2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Holoprosencephaly, hypopituitarism
Tags
Green Green List (high evidence)
GLI3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Pallister-Hall syndrome
Tags
Green Green List (high evidence)
HDAC8
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Cornelia De Lange
Tags
Green Green List (high evidence)
HESX1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Septo-optic dysplasia
  • variable involvement of pituitary hormones
Tags
Green Green List (high evidence)
HRAS
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Costello syndrome
Tags
Green Green List (high evidence)
IGF1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Insulin-Like Growth Factor I Deficiency
  • Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747
Tags
Green Green List (high evidence)
IGF1R
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Insulin likegrowthfactorI,resistanceto,270450
  • Insulin-Like Growth Factor I Resistance
Tags
Green Green List (high evidence)
IGFALS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Short stature
  • delayed puberty
  • very low IGF-I levels
Tags
Green Green List (high evidence)
INSR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leprechaunism
Tags
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
  • uterine didelphys
  • language delay
  • Hyptonia
  • prematurity
  • clinodactyly
  • ADHD
  • Goldenhar syndrome
  • developmental delay
  • 611867
  • diaphragmatic hernia
  • DiGeorge syndrome (DGS)
  • velocardiofacial syndrome
  • mild skeletal abnormalities
  • Seizures
  • global developmental delay
  • prenatal and postnatal growth delay
  • micropephaly
  • cardiovascular defects
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
  • Koolen-De Vries syndrome 610443
  • 610443
  • PMID: 25217958
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)
KDM6A
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Kabuki
Tags
Green Green List (high evidence)
KMT2D
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Kabuki
Tags
Green Green List (high evidence)
KRAS
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Rasopathy
Tags
Green Green List (high evidence)
LHX3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • GH, TSH, LH, FSH, PRL deficiencies
Tags
Green Green List (high evidence)
LHX4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • hypopituitarism
Tags
Green Green List (high evidence)
LIG4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • microcephaly, growth retardation, immunodeficiency, developmental delay
Tags
Green Green List (high evidence)
MAP2K1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Cardiofaciocutaneous syndrome
Tags
Green Green List (high evidence)
MAP2K2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Cardiofaciocutaneous syndrome
Tags
Green Green List (high evidence)
NBN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nijmegen breakage syndrome
Tags
Green Green List (high evidence)
NIPBL
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Cornelia De Lange
Tags
Green Green List (high evidence)
NRAS
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.)
Tags
Green Green List (high evidence)
OBSL1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-M syndrome 2, 612921
Tags
Green Green List (high evidence)
ORC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • microtia, beaked nose, patellar aplasia/hypoplasia, mammary hypoplasia, micrognathia
Tags
Green Green List (high evidence)
ORC4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia
Tags
Green Green List (high evidence)
ORC6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia
Tags
Green Green List (high evidence)
OTX2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Microcephaly, bilateral anopthalmia, developmental delay, cleft palate
Tags
Green Green List (high evidence)
PAPPA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance
Tags
Green Green List (high evidence)
PIK3R1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • SHORT syndrome
Tags
Green Green List (high evidence)
PITX2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • AXENFELD-RIEGER SYNDROME
Tags
Green Green List (high evidence)
PNPLA6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Oliver-Mcfarlane syndrome, Trichomegaly, GH deficiency, retinal dystrophy, hypogonadotrophic hypogonadism
Tags
Green Green List (high evidence)
POU1F1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • GH, PRL deficiencies
  • variable degree of TSH deficiency
Tags
Green Green List (high evidence)
PROKR2
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • hypopituitarism, Hypoplastic corpus callosum, normal or small anterior pituitary, Club foot, syrinx spinal cord, microcephaly, epilepsy
Tags
Green Green List (high evidence)
PROP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pituitary hormone deficiency, combined
Tags
Green Green List (high evidence)
PTPN11
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RAD21
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Cornelia De Lange
Tags
Green Green List (high evidence)
RAF1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Rasopathy
Tags
Green Green List (high evidence)
RBBP8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • seckel syndrome but with proportionate head/height impairment, cafe au lair macules
Tags
Green Green List (high evidence)
RIT1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Rasopathy
Tags
Green Green List (high evidence)
RNU4ATAC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MOPD I
Tags
  • locus-type-rna-small-nuclear
Green Green List (high evidence)
ROR2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Robinow
Tags
Green Green List (high evidence)
RPL10
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked, syndromic, 35
Tags
Green Green List (high evidence)
RPS6KA3
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Coffin Lowry
Tags
Green Green List (high evidence)
SAMD9
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • MIRAGE syndrome, 617053
Tags
  • missense
Green Green List (high evidence)
SHOC2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Noonan with loss of anagen hair
Tags
Green Green List (high evidence)
SHOX
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SMC1A
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Cornelia De Lange
Tags
Green Green List (high evidence)
SMC3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Cornelia De Lange
Tags
Green Green List (high evidence)
SOS1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Rasopathy
Tags
Green Green List (high evidence)
SOX2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SOX3
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Panhypopituitarism, X-linked, 312000
  • Mental retardation, X-linked, with isolated growth hormone deficiency, 300123
Tags
Green Green List (high evidence)
SRCAP
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Floating-Harbor syndrome, 136140
Tags
Green Green List (high evidence)
STAT5B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TBCE
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TRIM37
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mulibery Nanism
Tags
Green Green List (high evidence)
WRN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Werner syndrome
Tags
Green Green List (high evidence)
XRCC4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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
Phenotypes
  • Phenotypes consistent with hypomethylation at multiple imprinted loci
Tags
Red Red List (low evidence)
ACAN
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • short stature, accelerated bone maturation, Spondyloepiphyseal dysplasia, early onset osteoarthritis
Tags
Red Red List (low evidence)
ATRIP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • microcephaly, micrognathia, small ear lobes, dental crowding
Tags
Red Red List (low evidence)
ATRX
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • SGA, which is sometimes called intrauterine growth restriction (IUGR),
Tags
Red Red List (low evidence)
BTK
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
DNA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • seckel syndrome
Tags
Red Red List (low evidence)
DOK7
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Myasthenia, limb-girdle, familial, 254300Fetal akinesia deformation sequence, 208150
Tags
Red Red List (low evidence)
EPHX1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800
Tags
Red Red List (low evidence)
FANCM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Fanconi anemia, complementation group M, 614087
  • Fanconi Anemia
  • Fanconi anemia
Tags
Red Red List (low evidence)
GHSR
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Idiopathic short stature, GH deficiency
Tags
Red Red List (low evidence)
GPR161
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Short stature with hypopituitarism, intellectual disability, sparse or absent hair in the frontal area, hypotelorism, broad nasal root, thick alae nasi, nail hypoplasia, short fifth finger, 2-3 toe syndactyl. MRI showed hypoplastic pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pituitary stalk
Tags
Red Red List (low evidence)
H19
0 reviews
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
Phenotypes
  • Russell-Silver syndrome
Tags
  • locus-type-rna-long-non-coding
Red Red List (low evidence)
IFT172
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • GH deficiency, retinopathy, metaphyseal dysplasia
Tags
Red Red List (low evidence)
IGF2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Red
Phenotypes
  • Silver-Russell phenptype
  • IUGR
  • Pre- and post-natal growth failure
Tags
  • watchlist
Red Red List (low evidence)
IGFBP1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Silver-Russell Syndrome
Tags
Red Red List (low evidence)
IGFBP3
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Silver Russell Syndrome
Tags
Red Red List (low evidence)
LIG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • immunodeficiency, sun sensitivity, growth reatrdation
Tags
Red Red List (low evidence)
MCM5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Meier-Gorlin syndrome 8
Tags
Red Red List (low evidence)
RAPSN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
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
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • isolated growth hormone deficiency
Tags
Red Red List (low evidence)
SHOX2
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
SMARCAL1
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
THRB
0 reviews
Unknown
Sources
  • Expert Review Red
Tags

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