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.

3 reviewers

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

131 Entities

111 reviewed, 48 green

List Entity Reviews Mode of inheritance Details
131 Entitiess
Green Green List (high evidence)
ACAN
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (AD), 165800
  • Spondyloepimetaphyseal dysplasia, aggrecan type (AR), 612813
  • short stature, accelerated bone maturation, Spondyloepiphyseal dysplasia, early onset osteoarthritis
  • ?Spondyloepiphyseal dysplasia, Kimberley type (AD), 608361
Tags
Green Green List (high evidence)
ANKRD11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • KBG
  • KBG syndrome, 148050
Tags
Green Green List (high evidence)
BLM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 210900 Bloom syndrome
  • Bloom syndrome, 210900
  • Bloom
Tags
Green Green List (high evidence)
BRAF
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • LEOPARD syndrome 3
  • LEOPARD Syndrome
  • Cardiofaciocutaneous syndrome
  • Cardiofaciocutaneous Syndrome
  • Cardio-facio-cutaneous syndrome
  • Noonan Syndrome
Tags
Green Green List (high evidence)
BRCA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group D1, 605724
  • 605724 Fanconi anemia, complementation group D1
Tags
Green Green List (high evidence)
BRIP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group J, 609054
  • 609054 Fanconi anemia, complementation group J
Tags
Green Green List (high evidence)
CBL
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
  • NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA
Tags
Green Green List (high evidence)
CCDC8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 3-M syndrome 3, 614205
  • 3M
Tags
Green Green List (high evidence)
CDKN1C
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • SRS/BWS
  • Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies
  • Beckwith-Wiedemann syndrome, 130650
Tags
Green Green List (high evidence)
CUL7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 3-M syndrome 1, 273750
  • 3M
Tags
Green Green List (high evidence)
ERCC4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group Q, 615272
  • 615272 Fanconi anemia, complementation group Q
Tags
Green Green List (high evidence)
FANCA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • pre- and postnatal growth retardation
  • a typical facial appearance with small head, eyes, and mouth
  • hypogonadism and reduced fertility
  • malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii)
  • Fanconi anemia, complementation group A, 227650
  • cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots)
  • hearing loss
  • and susceptibility to cancer, predominantly acute myeloid leukemia.
  • Fanconi Anemia
  • 227650 Fanconi anemia complementation group A
  • Fanconi anemia
  • bone marrow failure
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
Phenotypes
  • Fanconi Anemia Type B
  • VACTERL Association with Hydrocephalus
  • 300514 Fanconi anemia, complementation group B
  • Fanconi Anemia, X-Linked
  • Fanconi Anaemia
  • Fanconi anemia
  • Falcon anemia
  • Fanconi anemia, complementation group B, 300514
Tags
Green Green List (high evidence)
FANCC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • pre- and postnatal growth retardation
  • a typical facial appearance with small head, eyes, and mouth
  • hypogonadism and reduced fertility
  • malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii)
  • cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots)
  • hearing loss
  • and susceptibility to cancer, predominantly acute myeloid leukemia.
  • Fanconi Anemia
  • Fanconi anemia, complementation group C, 227645
  • Fanconi anemia
  • bone marrow failure
  • 227645 Fanconi anemia, complementation group C
Tags
Green Green List (high evidence)
FANCD2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fanconi anemia
  • Fanconi anemia, complementation group D2, 227646
  • 227646 Fanconi anemia, complementation group D2
  • Fanconi Anemia
Tags
Green Green List (high evidence)
FANCE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group E, 600901
  • Fanconi anemia
  • 600901 Fanconi anemia, complementation group E
  • Fanconi Anemia
Tags
Green Green List (high evidence)
FANCF
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fanconi anemia
  • Fanconi anemia, complementation group F, 603467
  • 603467 Fanconi anemia, complementation group F
  • Fanconi Anemia
Tags
Green Green List (high evidence)
FANCG
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 614082 Fanconi anemia, complementation group G
  • pre- and postnatal growth retardation
  • a typical facial appearance with small head, eyes, and mouth
  • hypogonadism and reduced fertility
  • Fanconi anemia, complementation group G, 614082
  • Fanconi anemia complementation group G
  • malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii)
  • cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots)
  • hearing loss
  • and susceptibility to cancer, predominantly acute myeloid leukemia.
  • Fanconi Anemia
  • Fanconi anemia
  • bone marrow failure
Tags
Green Green List (high evidence)
FANCI
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fanconi anemia
  • Fanconi anemia, complementation group I, 609053
  • 609053 Fanconi anemia, complementation group I
  • Fanconi Anemia
Tags
Green Green List (high evidence)
FANCL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fanconi anemia
  • Fanconi anemia, complementation group L, 614083
  • 614083Fanconi anemia, complementation group L
  • Fanconi Anemia
Tags
Green Green List (high evidence)
FGFR3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Hypochondroplasia, 146000
Tags
Green Green List (high evidence)
HMGA2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • SRS
  • Silver-Russell syndrome
Tags
Green Green List (high evidence)
HRAS
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Costello syndrome, 218040
  • Costello
  • Costello syndrome
Tags
Green Green List (high evidence)
IGF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Insulin-Like Growth Factor I Deficiency
  • Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747
  • IGF1
Tags
Green Green List (high evidence)
IGF1R
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Insulin-Like Growth Factor I Resistance
  • Insulin likegrowthfactorI,resistanceto,270450
  • 15q-Del
Tags
Green Green List (high evidence)
IGF2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • SRS
  • IUGR
  • Pre- and post-natal growth failure
  • ?Growth restriction, severe, with distinctive facies, 616489
  • Silver-Russell phenptype
Tags
  • watchlist
Green Green List (high evidence)
KRAS
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Rasopathy
  • Noonan syndrome
  • CFC syndrome
  • Cardiofaciocutaneous syndrome 2
  • Noonan syndrome 3
  • Cardiofaciocutaneous Syndrome
  • Cardio-Facio-Cutaneous syndrome
Tags
Green Green List (high evidence)
LZTR1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Noonan syndrome 10
  • increased nuchal translucency
  • Prenatal hydrops
  • cardiac findings
Tags
Green Green List (high evidence)
MAP2K1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • LEOPARD syndrome
  • CFC syndrome
  • Cardiofaciocutaneous syndrome
  • Cardiofaciocutaneous Syndrome
  • Cardio-Facio-Cutaneous syndrome
  • Cardiofaciocutaneous syndrome 3
  • ?Noonan syndrome
Tags
Green Green List (high evidence)
MAP2K2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • CFC syndrome
  • Cardiofaciocutaneous syndrome 4
  • Cardiofaciocutaneous syndrome
  • Cardio-Facio-Cutaneous syndrome type 4
  • Cardiofaciocutaneous Syndrome
  • Cardio-Facio-Cutaneous syndrome
Tags
Green Green List (high evidence)
NBN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Nijmegen
  • Nijmegen breakage syndrome, 251260
Tags
Green Green List (high evidence)
NRAS
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Noonan syndrome
  • CFC Syndrome
  • A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.)
  • Noonan syndrome 6
  • Cardio-Facio-cutanenous syndrome
Tags
Green Green List (high evidence)
OBSL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 3M
  • 3-M syndrome 2, 612921
Tags
Green Green List (high evidence)
PALB2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group N, 610832
  • 610832 Fanconi anemia, complementation group N
Tags
Green Green List (high evidence)
PIK3R1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • SHORT syndrome, 269880
  • SHORT
Tags
Green Green List (high evidence)
PLAG1
3 reviews
1 green
Not set
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • SRS
  • Silver-Russell syndrome
Tags
Green Green List (high evidence)
PPP1CB
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Noonan syndrome-like disorder with loose anagen hair 2, 617506
  • Rasopathy with developmental delay, short stature and sparse slow-growing hair
Tags
Green Green List (high evidence)
PTPN11
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • LEOPARD syndrome 1
  • LEOPARD syndrome
  • Noonan syndrome 1
  • Noonan syndrome
Tags
Green Green List (high evidence)
RAF1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Rasopathy
  • Noonan syndrome
  • LEOPARD syndrome 2
  • Noonan syndrome 5
  • LEOPARD syndrome
Tags
Green Green List (high evidence)
RIT1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Rasopathy
  • Noonan syndrome 8
  • Noonan syndrome type 8
Tags
Green Green List (high evidence)
SHOC2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Noonan with loss of anagen hair
  • Noonan-like syndrome with loose anagen hair
Tags
Green Green List (high evidence)
SLX4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 613951 Fanconi Anemia Fanconi anemia, complementation group P
  • Fanconi anemia, complementation group P, 613951
  • Fanconi Anemia
Tags
Green Green List (high evidence)
SOS1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Rasopathy
  • Noonan syndrome
  • Noonan syndrome 4
Tags
Green Green List (high evidence)
SOS2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Noonan syndrome 9
Tags
Green Green List (high evidence)
SRCAP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Floating Harbor
  • Floating-Harbor syndrome, 136140
Tags
Green Green List (high evidence)
TOP3A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MGRISCE2 (Bloom-like syndrome) 618097
  • Microcephaly, growth restriction, and increased sister chromatid exchange 2
  • 618097 MGRISCE2 (Bloom-like syndrome)
Tags
Green Green List (high evidence)
TRIM37
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mulibery Nanism, 253250
  • Mulibrey nanism
Tags
Green Green List (high evidence)
UBE2T
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Falcon anemia
  • 616435 Fanconi anemia, complementation group T
  • Fanconi anemia, complementation group T, 616435
Tags
Amber Amber List (moderate evidence)
SPRED1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Legius Syndrome
  • Neurofibromatosis-like syndrome
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)
CDC6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • ?Meier-Gorlin syndrome 5, 613805
  • patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia
Tags
Red Red List (low evidence)
CDT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia
  • Meier-Gorlin syndrome 4, 613804
  • Meier-Gorlin
Tags
Red Red List (low evidence)
CENPJ
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • seckel syndrome
Tags
Red Red List (low evidence)
CHD7
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • CHARGE syndrome - ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogenital anomalies, and growth retardation
  • CHARGE syndrome, 214800
Tags
Red Red List (low evidence)
COL1A1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
Phenotypes
  • OI
  • Osteogenesis imperfecta, type II, 166210
  • Osteogenesis imperfecta, type III, 259420
  • Osteogenesis imperfecta, type I, 166200
  • Osteogenesis imperfecta, type IV, 166220
Tags
Red Red List (low evidence)
CREBBP
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Rubenstein Taybi
Tags
Red Red List (low evidence)
CRIPT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis (staring look), upturned nostrils, and hypoplastic terminal phalanges with brachydactyly
Tags
Red Red List (low evidence)
DHCR7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Smith Lemli Opitz
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)
EP300
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Rubenstein Taybi
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)
ERCC6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Cockayne syndrome, type B, 133540
Tags
Red Red List (low evidence)
ERCC8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • cockayne
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)
FGD1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • Aarskog
Tags
Red Red List (low evidence)
FGF8
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • hypopituitarism, absent corpus callosum, Holoprosencephaly, Moebius syndrome, craniofacial defects, high arched palate, maxillary hypoplasia, microcepahly, spastic diplegia
Tags
Red Red List (low evidence)
FGFR1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
GH1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Growth hormone deficiency
Tags
Red Red List (low evidence)
GHR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Laron syndrome
Tags
Red Red List (low evidence)
GHRHR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Growth hormone deficiency
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)
GLI2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Holoprosencephaly, hypopituitarism
Tags
Red Red List (low evidence)
GLI3
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Pallister-Hall syndrome
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)
HDAC8
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
Phenotypes
  • Cornelia De Lange
Tags
Red Red List (low evidence)
HESX1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Septo-optic dysplasia
  • variable involvement of pituitary hormones
Tags
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)
IGFALS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Short stature
  • delayed puberty
  • very low IGF-I levels
Tags
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)
INSR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Leprechaunism
Tags
Red Red List (low evidence)
7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss
ISCA-37392-Loss
Region
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • 194050
  • Williams syndrome
Tags
Red Red List (low evidence)
22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Loss
ISCA-37397-Loss
Region
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Red
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
Red Red List (low evidence)
16p13.3 region (includes CREBBP) Loss
ISCA-37406-Loss
Region
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Red
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
Red Red List (low evidence)
17q21.3 recurrent region (includes KANSL1) Loss
ISCA-37420-Loss
Region
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Red
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
Red Red List (low evidence)
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
ISCA-37429-Loss
Region
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • 194190
  • Wolf-Hirschhorn syndrome
Tags
Red Red List (low evidence)
KDM6A
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
Phenotypes
  • Kabuki
Tags
Red Red List (low evidence)
KMT2D
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Kabuki
Tags
Red Red List (low evidence)
LHX3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • GH, TSH, LH, FSH, PRL deficiencies
Tags
Red Red List (low evidence)
LHX4
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • hypopituitarism
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)
LIG4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • microcephaly, growth retardation, immunodeficiency, developmental delay
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)
NIPBL
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Cornelia De Lange
Tags
Red Red List (low evidence)
ORC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • microtia, beaked nose, patellar aplasia/hypoplasia, mammary hypoplasia, micrognathia
  • Meier-Gorlin
  • Meier-Gorlin syndrome 1, 224690
Tags
Red Red List (low evidence)
ORC4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Meier-Gorlin
  • Meier-Gorlin syndrome 2, 613800
  • micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia
Tags
Red Red List (low evidence)
ORC6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Meier-Gorlin syndrome 3, 613803
  • Meier-Gorlin
  • micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia
Tags
Red Red List (low evidence)
OTX2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Microcephaly, bilateral anopthalmia, developmental delay, cleft palate
Tags
Red Red List (low evidence)
PAPPA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density
Tags
Red Red List (low evidence)
PCNT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • MOPDII
  • Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance, 210720
Tags
Red Red List (low evidence)
PITX2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • AXENFELD-RIEGER SYNDROME
Tags
Red Red List (low evidence)
PNPLA6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Oliver-Mcfarlane syndrome, Trichomegaly, GH deficiency, retinal dystrophy, hypogonadotrophic hypogonadism
Tags
Red Red List (low evidence)
POU1F1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • GH, PRL deficiencies
  • variable degree of TSH deficiency
Tags
Red Red List (low evidence)
PROKR2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • hypopituitarism, Hypoplastic corpus callosum, normal or small anterior pituitary, Club foot, syrinx spinal cord, microcephaly, epilepsy
Tags
Red Red List (low evidence)
PROP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Pituitary hormone deficiency, combined
Tags
Red Red List (low evidence)
RAD21
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Cornelia De Lange
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)
RBBP8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • seckel syndrome but with proportionate head/height impairment, cafe au lair macules
Tags
Red 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)
RNU4ATAC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • MOPD I
Tags
  • locus-type-rna-small-nuclear
Red Red List (low evidence)
ROR2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Robinow
Tags
Red Red List (low evidence)
RPL10
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • Mental retardation, X-linked, syndromic, 35
Tags
Red Red List (low evidence)
RPS6KA3
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
Phenotypes
  • Coffin Lowry
Tags
Red Red List (low evidence)
SAMD9
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • MIRAGE syndrome, 617053
Tags
  • missense
Red Red List (low evidence)
SHOX
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
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)
SMC1A
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
Phenotypes
  • Cornelia De Lange
Tags
Red Red List (low evidence)
SMC3
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Cornelia De Lange
Tags
Red Red List (low evidence)
SOX2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
SOX3
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
Phenotypes
  • Panhypopituitarism, X-linked, 312000
  • Mental retardation, X-linked, with isolated growth hormone deficiency, 300123
Tags
Red Red List (low evidence)
STAT5B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
TBCE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
THRB
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
WRN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Werner syndrome
Tags
Red Red List (low evidence)
XRCC4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism
Tags
Red Red List (low evidence)
ZFP57
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Phenotypes consistent with hypomethylation at multiple imprinted loci
Tags

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