Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME 231550
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
- Triple-A syndrome, MONDO:0009279
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Developmental and epileptic encephalopathy 29, OMIM:616339
- Developmental and epileptic encephalopathy, 29, MONDO:0014593
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Combined oxidative phosphorylation deficiency 8, 614096
- infantile mitochondrial cardiomyopathy
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Hyperlysinemia, OMIM:238700
- Hyperlysinemia (disease), MONDO:0009388
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Hyperlysinemia, OMIM:238700
- Hyperlysinemia (disease), MONDO:0009388
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Hyperlysinemia, OMIM:238700
- Hyperlysinemia (disease), MONDO:0009388
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
4 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- GABA-transaminase deficiency, 613163
- developmental delay
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
3 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- 613163
- GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate)
- mtDNA depletion syndrome
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ABAT-related GABA-transaminase Deficiency
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Tangier disease (Disorders of high density lipoprotein metabolism)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM:618808
- Intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ABCB11-RELATED INTRAHEPATIC CHOLESTASIS 601847
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport)
- Cholestasis, benign recurrent intrahepatic, 2 605479
- Cholestasis, progressive familial intrahepatic 2 601847
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Gallbladder disease 1 600803 AD, AR
- Cholestasis, progressive familial intrahepatic 3 602347 AR
- Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport)
- Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ANEMIA, SIDEROBLASTIC, WITH ATAXIA 301310
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
1 green
1 red
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Anemia, sideroblastic, with ataxia OMIM:301310
- X-linked sideroblastic anemia with ataxia MONDO:0010524
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 614473
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
NHS GMS
-
Expert Review Green
Phenotypes
- Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome)
- Hypertrichotic osteochondrodysplasia 239850
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
2 green
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Cardiomyopathy, dilated, 10, 608569
- Atrial fibrillation, familial, 12, 614050
- Hypertrichotic osteochondrodysplasia, 239850
- CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA 239850
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Adrenoleukodystrophy, 300100
- Adrenomyeloneuropathy, adult, 300100
- ADRENOLEUKODYSTROPHY, X-LINKED
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- X-linked adrenoleukodystrophy (Disorders of peroxisomal alpha-, beta and omega-oxidation)
- Adrenoleukodystrophy 300100
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- ADRENOLEUKODYSTROPHY, X-LINKED 300100
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE 614857
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Methylmalonic aciduria and homocystinuria, cblJ type
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Methylmalonic aciduria and homocystinuria, cblJ type, 614857
- METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE
- MAHCJ
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
Phenotypes
- Sitosterolaemia (Inherited hypercholesterolaemias)
- Familial hypercholesterolaemia
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
Phenotypes
- Sitosterolaemia (Inherited hypercholesterolaemias)
- Familial hypercholesterolaemia
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
Phenotypes
- Hereditary ataxia
- Posterior segment abnormalities
- Congenital hearing impairment (profound/severe)
- PHARC syndrome (Disorders of complex lipid synthesis)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
Phenotypes
- hearing loss
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674
- Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC)
- Hearing loss
- Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674
- #612674
- Hearing loss, sensorineural
- Subcapsular cataracts
- Retinitis pigmentosa
- Optic atrophy
- Nystagmus
- Pes cavus Achilles tendon contracture
- Distal muscle atrophy due to neurologic disease
- Ataxia Spasticity Extensor plantar responses
- Hyperreflexia Intention
- tremor
- Dysarthria Dysmetria Cerebellar atrophy
- Sensorimotor peripheral neuropathy
- Distal sensory loss
- Demyelinating neuropathy
- Hyporeflexia
- Decreased nerve conduction velocities
- Normal serum phytanic and pristanic acid
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Spastic paraplegia
- Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ABHD16A-associated spastic paraplegia, intellectual disability and thin corpus callosum
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
1 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Chanarin-Dorfman syndrome, 275630
- CHANARIN-DORFMAN SYNDROME (CDS)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CHANARIN-DORFMAN SYNDROME 275630
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Chanarin-Dorfman syndrome 275630
- Neutral lipid storage disease (Disorders of lipolysis)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Congenital heart defects and skeletal malformations 617602
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Congenital heart defects and skeletal malformations syndrome 617602
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Isobutyric aciduria (Organic acidurias)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Mitochondrial complex I deficiency due to ACAD9 deficiency
- ACAD9 deficiency, 611126
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex I deficiency
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY 611126
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- ACAD9 deficiency, 611126
- ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201450
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Acyl-CoA dehydrogenase, medium chain, deficiency of
- Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Acyl-CoA dehydrogenase, short-chain, deficiency of
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY 201470
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Acyl-CoA dehydrogenase, short-chain, deficiency of 201470
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- 2-methylbutyrylglycinuria 610006
- 2-Methylbutyric aciduria (Organic acidurias)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- VLCAD deficiency
- Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201475
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE 612813
- SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY 608361
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800
- Spondyloepimetaphyseal dysplasia, aggrecan type 61283
- Spondyloepiphyseal dysplasia, Kimberley type 608361
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ALPHA-METHYLACETOACETIC ACIDURIA 203750
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism)
- Fasting intolerance with acidosis, ? residual neurological problems
- 3-Oxothiolase deficiency (Organic acidurias)
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ACBD5 deficiency, OMIM:618863
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Other
Phenotypes
- CAKUT
- Renal Tubular Dysgenesis
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Literature
Phenotypes
- Leukodystrophy, progressive, early childhood-onset, OMIM:617762
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ACER3-related leukodystrophy, OMIM:617762
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- INFANTILE CEREBELLAR-RETINAL DEGENERATION 614559
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
Phenotypes
- Infantile cerebellar-retinal degeneration, 614559
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- Infantile cerebellar-retinal degeneration, OMIM:614559
- Infantile cerebellar-retinal degeneration, MONDO:0013802
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
- Mitchell syndrome, OMIM:618960
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ADRENOLEUKODYSTROPHY PSEUDONEONATAL 264470
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
Phenotypes
- Spondyloenchondrodysplasia with immune dysregulation 607944
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 607944
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Combined methylmalonic and malonic aciduria (Organic acidurias)
- Combined malonic and methylmalonic aciduria
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- MENTAL RETARDATION X-LINKED TYPE 63 300387
- ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS 300194
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Mental retardation, X-linked 63, OMIM:300387
- Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome, MONDO:0010263
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- NEMALINE MYOPATHY 3, 161800
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- AORTIC ANEURYSM, FAMILIAL THORACIC 6 611788
- MOYAMOYA DISEASE 5 614042
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- BARAITSER-WINTER SYNDROME 1
- BRWS1
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- BARAITSER-WINTER SYNDROME
- ACTB Haploinsufficiency syndtome
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
- BARAITSER-WINTER SYNDROME
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
South West GLH
Phenotypes
- Atrial septal defect 5
- Cardiomyopathy, hypertrophic, 11
- Cardiomyopathy, dilated, 1R
- Left ventricular noncompaction 4
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- BARAITSER-WINTER SYNDROME 2
- BRWS2
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Deafness, autosomal dominant 20/26, 604717Baraitser-Winter syndrome 2, 614583
- BARAITSER-WINTER SYNDROME
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
UKGTN
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
-
Expert list
Phenotypes
- hearing loss
- Deafness, autosomal dominant 20/26, 604717
- Baraitser-Winter syndrome 2, 614583
- #604717
- Hearing loss, sensorineural, bilateral, progressive
- Hearing loss begins with loss of high frequencies
- Audiogram shows sloping configuration
- Deafness, profound, by 6th decade
- Trigonocephaly/metopic ridge
- Prominent/full/wide cheeks
- Pointed chin
- Retrognathia (in some patients)
- Abnormally shaped ears
- Deafness (in some patients)
- Microphthalmia (in some patients)
- Arched eyebrows
- Long palpebral fissures
- Eye coloboma (in some patients)
- Hypertelorism/telecanthus
- Ptosis
- Short, upturned nose
- Large, squared nose tip
- Prominent nasal root on profile
- Thick/prominent/everted lower lipCleft lip/palate (in some patients)
- Long philtrum
- Thin upper lip
- Large mouth
- Short neck (in some patients)
- Pterygium colli (in some patients)
- Heart defect (in some patients)
- Kyphosis/scoliosis (in some patients)
- Pectus (in some patients)
- Enlarged ventricles (in some patients)
- Intellectual disabilityPachygyria/lissencephalyAgenesis of corpus callosum (in some patients)
- Epilepsy
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BARAITSER-WINTER SYNDROME
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Other
Phenotypes
- CAKUT
- Megacystis-microcolon intestinal hypoperistalsis syndrome
- Visceral myopathy, 155310
- Berdon syndrome
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
1 green
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- developmental delay
- intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
1 green
3 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Developmental and epileptic encephalopathy 76, OMIM:618468
- Intellectual developmental disorder with severe speech and ambulation defects, OMIM:618470
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468
- INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- FIBRODYSPLASIA OSSIFICANS PROGRESSIVA 135100
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
Expert Review Green
Phenotypes
- Fibrodysplasia ossificans progressiva 135100
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Aminoacylase 1 deficiency, 609924
- AMINOACYLASE-1 DEFICIENCY
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- AMINOACYLASE-1 DEFICIENCY 609924
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
Phenotypes
- Intellectual disability
- Aminoacylase 1 deficiency (Organic acidurias)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ADENOSINE DEAMINASE DEFICIENCY 102700
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
Phenotypes
- Combined B and T cell defect
- Adenosine deaminase deficiency (Disorders of purine metabolism)
- SCID
- Infantile enterocolitis & monogenic inflammatory bowel disease
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ADAM22-associated developmental and epileptic encephalopathy
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- ?Epileptic encephalopathy, early infantile, 61 OMIM:617933
- developmental and epileptic encephalopathy, 61 MONDO:0033370
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
Phenotypes
- Weill-Marchesani syndrome 1, recessive, 277600
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
Phenotypes
- Weill-Marchesani syndrome type 4
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- KNOBLOCH SYNDROME 2 608454
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Literature
Phenotypes
- Non-syndromic heart valve disease
- heart valve disease, MONDO:0002869
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Nephronophthisis Related Ciliopathy
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
Phenotypes
- Geleophysic dysplasia 1 231050
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Aicardi-Goutieres syndrome 6, OMIM:615010
- Dyschromatosis symmetrica hereditaria, OMIM:127400
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE 615010
- DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 127400
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Aicardi-Goutieres syndrome 6, OMIM:615010
- Dyschromatosis symmetrica hereditaria, OMIM:127400
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Expert Review
Phenotypes
- Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ADCY5-related developmental disorder (monoallelic)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Literature
Phenotypes
- Global developmental delay
- Intellectual disability
- Seizures
- Ventriculomegaly
- Abnormality of the corpus callosum
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Cerebral palsy, spastic quadriplegic, 3, MIM#617008
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Polymicrogyria, bilateral frontoparietal, 606854
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- LETHAL CONGENITAL CONTRACTURE SYNDROME 9 616503
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Expert
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
UKGTN
Phenotypes
- hearing loss
- Febrile seizures, familial, 4, 604352
- Syndromic and Non Syndromic Hearing Loss
- Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
- Usher syndrome, type 2C, 605472
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Hypermethioninemia due to adenosine kinase deficiency 614300
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28
- MRD28
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 615873
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170
- neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- ade(-)I bifunctional Adenylosuccinase deficiency, 103050
- ADENYLOSUCCINASE DEFICIENCY (ADSL DEFICIENCY)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ADENYLOSUCCINASE DEFICIENCY 103050
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
Phenotypes
- Intellectual disability
- Epileptic encephalopathy
- Adenylosuccinate lyase deficiency (Disorders of purine metabolism)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- FRAGILE X-E MENTAL RETARDATION SYNDROME 309548
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Emory Genetics Laboratory
Phenotypes
- Mental retardation, X-linked, FRAXE type, 309548
- FRAXE Syndrome
- FRAGILE X-E MENTAL RETARDATION SYNDROME (FRAXE)
Tags
- nucleotide-repeat-expansion
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
NHS GMS
-
Victorian Clinical Genetics Services
Phenotypes
- KINSSHIP syndrome, OMIM:619297
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Skeletal dysplasia with severe neurological disease
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
NHS GMS
-
Expert Review Green
Phenotypes
- KINSSHIP syndrome, OMIM:619297
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- CORNELIA DE LANGE-LIKE SYNDROME
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CORNELIA DE LANGE-LIKE SYNDROME
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Optic atrophy 12, OMIM:618977
- Spinocerebellar ataxia 28, OMIM:610246
- Spastic ataxia 5, autosomal recessive, OMIM:614487
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ASPARTYLGLUCOSAMINURIA 208400
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
Expert list
-
Emory Genetics Laboratory
-
Expert Review Green
Phenotypes
- Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Aspartylglucosaminuria, 208400
- ASPARTYLGLUCOSAMINURIA (AGU)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Mitochondrial DNA depletion syndrome 10
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Acylglycerol kinase deficiency (Senger syndrome) (Disorders of complex lipid synthesis)
- Sengers syndrome, 212350
- Sengers syndrome 212350
- Disorders of mitochondrial lipid metabolism
- Cataract 38, autosomal recessive, 614691
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- GLYCOGEN STORAGE DISEASE TYPE III 232400
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Glycogen storage disease type III, Cori (Glycogen storage disorders)
- Glycogen storage disease IIIb, 232400
- Glycogen Storage Disorders- Liver
- Glycogen Storage Disease
- myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance
- Glycogen Storage Disease Type III
- Glycogen Storage Disorders- Muscle
- Glycogen storage disease IIIa, 232400
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- AGO1-related developmental disorder (monoallelic)
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
2 green
3 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, OMIM:620292
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Intellectual disability
- regression
- seizures
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 600121
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Emory Genetics Laboratory
-
UKGTN
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Foundation Trust) Rhizomelic chondrodysplasia punctata, type 3 600121
- Rhizomelic chondrodysplasia punctata, type 3 600121
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Rhizomelic chondrodysplasia punctata, type 3 600121
- Rhizomelic chondrodysplasia punctata type 3 (Peroxisomal disorders)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Other
Phenotypes
- Renal tubular dysgenesis, 267430
- CAKUT
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY, OMIM:618276
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Other
Phenotypes
- CAKUT
- Hypertension, essential, 145500
- Renal Tubular Dysgenesis
- Renal tubular dysgenesis, 267430
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Primary hyperoxaluria type I (Other peroxisomal disorders)
- Primary hyperoxaluria type I (Disorders of glyoxylate metabolism)
- Hyperoxaluria, primary, type 1
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- HYPEROXALURIA, PRIMARY, TYPE 1 259900
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
Phenotypes
- Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752
- Disorders of the metabolism of sulphur amino acids
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
1 green
3 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- XIA-GIBBS SYNDROME 615829
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Joubert syndrome 3
- Joubert syndrome
- Joubert syndrome-3.
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
-
Other
Phenotypes
- Joubert syndrome 3
- Joubert syndrome
- Joubert syndrome-3.
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
2 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Joubert syndrome 3 608629
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
-
Other
Phenotypes
- Joubert syndrome 3
- Joubert syndrome
- Joubert syndrome-3.
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Cowchock syndrome, OMIM:310490
- Combined oxidative phosphorylation deficiency 6, OMIM:300816
- Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, OMIM:300232
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Disorders of mitochondrial apoptosis
- Cowchock syndrome, 310490
- Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Combined oxidative phosphorylation deficiency 6, 300816
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 300816
- COWCHOCK SYNDROME 310490
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Deafness, X-linked 5, OMIM:300614
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Leukodystrophy, hypomyelinating, 3, OMIM:260600
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- LEUKODYSTROPHY, HYPOMYELINATING, 3 260600
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- LEBER CONGENITAL AMAUROSIS 4 604393
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 240300
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- RETICULAR DYSGENESIS 267500
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- ?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis)
- Bile acid synthesis defect, congenital, 2 235555
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 235555
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy, OMIM:240900
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- HEMIMEGALENCEPHALY AKT3 603387
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- {Lead poisoning, susceptibility to} 612740
- Acute hepatic porphyria (Acute neuropathic porphyrias)
- Porphyria, acute hepatic 612740
Tags
|
Green
Green List (high evidence)
|
|
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
-
Expert list
-
London North GLH
-
NHS GMS
Phenotypes
- Erythropoietic protoporphyria, mild variant
- X-linked sideroblastic anaemia (XLSA) (Porphyrias with acute painful photosensitivity)
- X-linked dominant protoporphyria (Porphyrias with acute painful photosensitivity)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT 601162
- CUTIS LAXA, AUTOSOMAL DOMINANT 3 616603
- MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES 612652
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Cutis laxa, autosomal dominant 3 OMIM:616603
- cutis laxa, autosomal dominant 3 MONDO:0014706
- Cutis laxa, autosomal recessive, type IIIA OMIM:219150
- ALDH18A1-related de Barsy syndrome MONDO:0009053
- Spastic paraplegia 9A, autosomal dominant OMIM:601162
- hereditary spastic paraplegia 9A MONDO:0011006
- Spastic paraplegia 9B, autosomal recessive OMIM:616586
- autosomal recessive complex spastic paraplegia type 9B MONDO:0014702
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Cutis laxa, autosomal recessive, type IIIA, 219150
- SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT
- SPG9
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ANOPHTHALMIA/MICROPHTHALMIA
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
Phenotypes
- Sjogren-Larsson syndrome, OMIM:270200
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- SJOEGREN-LARSSON SYNDROME 270200
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Sjogren-Larsson syndrome, OMIM:270200
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- HYPERPROLINEMIA TYPE 2 239510
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Hyperprolinemia, type II, 239510
- HYPERPROLINEMIA TYPE 2 (HP-2)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Intellectual disability
- Hyperprolinaemia type II (Disorders of ornithine or proline metabolism)
- Hyperprolinemia, type II
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Succinic semialdehyde dehydrogenase deficiency OMIM:271980
- succinic semialdehyde dehydrogenase deficiency MONDO:0010083
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY 271980
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Succinic semialdehyde dehydrogenase deficiency OMIM:271980
- succinic semialdehyde dehydrogenase deficiency MONDO:0010083
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Methylmalonate semialdehyde dehydrogenase deficiency 614105
- 3-Hydroxyisobutyric aciduria (Organic acidurias)
- Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- PYRIDOXINE-DEPENDENT EPILEPSY 266100
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Epilepsy, pyridoxine-dependent
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- PYRIDOXINE-DEPENDENT EPILEPSY
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Glycogen Storage Disease
- Aldolase A deficiency (Glycogen storage disorders)
- Glycogen storage disease XII, 611881
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- GLYCOGEN STORAGE DISEASE XII 611881
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- hereditary fructose intolerance
- Hereditary fructose intolerance (Disorders of fructose metabolism)
- acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type Ik 608540
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital disorder of glycosylation, type Ik, 608540
- ALG1-CDG (CDG-IK)
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- Congenital disorder of glycosylation, type Ip 613661
- ALG11-CDG (CDG-IP)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- ALG11-CDG (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type Ip 613661
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G 607143
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
Phenotypes
- Congenital disorder of glycosylation, type Ig 607143
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Congenital disorder of glycosylation, type Ig 607143
- Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G (CDG1G)
Tags
|
Green
Green List (high evidence)
|
|
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
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- EPILEPTIC ENCEPHALOPATHIES.
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
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
-
DD-Gene2Phenotype
Phenotypes
- EPILEPTIC ENCEPHALOPATHY
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS 300884
- EPILEPTIC ENCEPHALOPATHIES.
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
Phenotypes
- ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
- Congenital myasthenic sydrome (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type Id 601110
- Mannosyltransferase 6 deficiency (Disorders of protein N-glycosylation)
- ALG3-CDG (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
Phenotypes
- Congenital disorder of glycosylation, type Id 601110
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- Congenital disorder of glycosylation, type Id, 601110
- ALG3-CDG (CDG-ID)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- Congenital disorder of glycosylation, type Ic, 603147
- ALG6-CDG (CDG-IC)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Congenital disorder of glycosylation, type Ic 603147
- Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- Congenital disorder of glycosylation, type Ih OMIM:608104
- ALG8-CDG MONDO:0011969
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type Ih 608104
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- Congenital disorder of glycosylation, type Ih, 608104
- ALG8-CDG (CDG-IH)
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Developmental delay
- Congenital disorder of glycosylation, type Il 608776
- Gillessen-Kaesbach-Nishimura syndrome 263210
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation)
- ALG9-CDG (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type Il 608776
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
Phenotypes
- Gillessen-Kaesbach-Nishimura syndrome 263210
- Congenital disorder of glycosylation, type Il 608776
- Gillessen-Kaesbach-Nishimura syndrome 263210
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Expert Review
-
Expert Review
-
Literature
Phenotypes
- Intellectual developmental disorder, autosomal recessive 71, OMIM:618504
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ALKBH8-related intellectual disability, microcephaly and seizures, OMIM:618504
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
3 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Illumina TruGenome Clinical Sequencing Services
-
Expert Review Green
-
Orphanet
-
Eligibility statement prior genetic testing
-
UKGTN
-
Expert list
Phenotypes
- Bardet-Biedl Syndrome
- Alstrom syndrome, OMIM:203800
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Illumina TruGenome Clinical Sequencing Services
-
Expert Review Green
-
Orphanet
-
Eligibility statement prior genetic testing
-
UKGTN
-
Expert list
Phenotypes
- Alstrom Syndrome
- Bardet-Biedl Syndrome
- 203800
- Alstrom syndrome
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert
Phenotypes
- #203800: Alstrom syndrome
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
Phenotypes
- Hypophosphatasia, adult 146300
- Hypophosphatasia, childhood 241510
- Hypophosphatasia, infantile241500
- Odontohypophosphatasia 146300
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Emory Genetics Laboratory
Phenotypes
- hypophosphatasia
- skeletal dysplasias
- skeletal dysplasias
- Osteogenesis Imperfecta and Decreased Bone Density
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ALS2-RELATED DISORDERS 240656
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Expert list
Phenotypes
- Frontonasal dysplasia type 3 613456
- Frontonasal dysplasia 3 613456
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- FRONTONASAL DYSPLASIA TYPE 3 136760
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- FRONTONASAL DYSPLASIA TYPE 1 136760
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Expert list
-
UKGTN
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Frontonasal dysplasia 1 136760 (frontorhiny)
- Frontonasal dysplasia 1 136760
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- PARIETAL FORAMINA 2 609597
- FRONTONASAL DYSPLASIA 2 613451
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
Phenotypes
- Frontonasal dysplasia 2 613451
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Alpha-methylacyl-CoA racemase deficiency
- Alpha-methylacyl-CoA racemase deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
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
-
DD-Gene2Phenotype
Phenotypes
- OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS 300373
Tags
|
Green
Green List (high evidence)
|
|
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
-
NHS GMS
-
Expert Review Green
-
UKGTN
-
Expert list
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Osteopathia striata with cranial sclerosis 300373
- Osteopathia striata with cranial sclerosis 300373
Tags
|
Green
Green List (high evidence)
|
|
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
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
- OSCS
- Cleft palate
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
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
-
Victorian Clinical Genetics Services
-
BRIDGE study SPEED NEURO Tier1 Gene
-
BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Osteopathia striata with cranial sclerosis 300373
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Intrinsic factor receptor deficiency due to AMN mutations (Disorders of cobalamin absorption, transport and metabolism)
- Proteinuric renal disease
- Unexplained kidney failure in young people
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
-
Other
Phenotypes
- tall stature
- cardiac anomalies
- orofacial clefting
- AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- PONTOCEREBELLAR HYPOPLASIA
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- PONTOCEREBELLAR HYPOPLASIA
- Pontocerebellar hypoplasia, type 9, 615809
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Glycine encephalopathy, 605899
- GLYCINE ENCEPHALOPATHY
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- GLYCINE ENCEPHALOPATHY 605899
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- Rothmund-Thomson Syndrome Type 1
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Complex neurodevelopmental disorder, MONDO:0100038
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
4 green
2 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Victorian Clinical Genetics Services
Phenotypes
- Intellectual developmental disorder, autosomal recessive 37, OMIM:615493
- intellectual disability-hypotonia-spasticity-sleep disorder syndrome, MONDO:0014210
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CHONDROCALCINOSIS 2 118600
- CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE 123000
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Chondrocalcinosis 2 118600
- Craniometaphyseal dysplasia 123000
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
Expert Review Green
-
UKGTN
-
Radboud University Medical Center, Nijmegen
-
Expert list
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- KBG syndrome, 148050
- KBG SYNDROME
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- KBG syndrome,148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism)
- Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
- Orofacial Clefting with skeletal features
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ANKRD17-associated neurodevelopmental disorder
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Intellectual disability, speech delay, and dysmorphism
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- THROMBOCYTOPENIA 2 188000
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Orphanet
-
Expert Review Green
-
Expert list
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
- Nephronophthisis 16, OMIM:615382
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 10, 613728
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307
- GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
Expert Review Green
-
Emory Genetics Laboratory
Phenotypes
- Gnathodiaphyseal dysplasia OMIM:166260
- gnathodiaphyseal dysplasia MONDO:0008151
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
- skeletal dysplasias
- Disproportionate Short Stature
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Other
Phenotypes
- CAKUT
- Kallman syndrome
- Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- GAPO syndrome, OMIM:230740
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Expert list
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Hyaline fibromatosis syndrome 228600
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- AP1G1-related intellectual disability, biallelic
- AP1G1-related intellectual disability and epilepsy, monoallelic
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Neurodevelopmental disorder (NDD)
- Intellectual Disability
- Epilepsy
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Literature
Phenotypes
- Non-syndromic congenital intestinal failure
- MEDNIK syndrome, OMIM:609313
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Literature
Phenotypes
- MEDNIK syndrome, 609313
- MEDNIK syndrome
- mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma syndrome
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
NHS GMS
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Pettigrew syndrome, OMIM:304340
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MENTAL RETARDATION X-LINKED TYPE 59 300630
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review
-
Expert Review Green
-
Expert Review Green
-
Expert Review
-
Literature
Phenotypes
- Intellectual developmental disorder 60 with seizures, 618587
- Seizures
- Ataxia
- Generalized hypotonia
- Intellectual disability
- Global developmental delay
- Autistic behavior
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Developmental and Epileptic Encephalopathy
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- AP2S1-related developmental disorder (monoallelic)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Hermansky-Pudlak syndrome 2 608233
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
Phenotypes
- Epileptic encephalopathy, early infantile, 48 617276
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Epileptic Encephalopathy with Optic Atrophy
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5 614066
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Spastic paraplegia 47, autosomal recessive, OMIM:614066
- Hereditary spastic paraplegia 47, MONDO:0013551
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Spastic paraplegia 51, autosomal recessive, OMIM:613744
- Hereditary spastic paraplegia 51, MONDO:0013401
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 613744
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 612936
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Spastic paraplegia 50, autosomal recessive, 612936
- CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 (CPSQ3)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Spastic paraplegia 52, autosomal recessive, 614067
- CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 614067
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Cortical dysplasia, complex, with other brain malformations 10 OMIM:618677
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Amyloidosis, 3 or more types OMIM:105200
- familial visceral amyloidosis MONDO:0007099
- ApoA-I and apoC-III deficiency, combined OMIM:618463
- Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding OMIM:618463
- hypoalphalipoproteinemia, primary, 2 MONDO:0032766
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Hyperchylomicronemia, late-onset OMIM:144650
- hyperlipoproteinemia type V MONDO:0007762
- {Hypertriglyceridemia, susceptibility to} OMIM:145750
- hypertriglyceridemia, familial MONDO:0007788
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
Phenotypes
- Hypercholesterolemia, familial, 2 OMIM:144010
- hypercholesterolemia, autosomal dominant, type B MONDO:0007751
- Hypobetalipoproteinemia OMIM:615558
- familial hypobetalipoproteinemia 1 MONDO:0014252
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Hyperlipoproteinemia, type Ib 207750
- Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias)
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias)
- Hyperlipoproteinemia, type III 617347
- Sea-blue histiocyte disease 269600
- Lipoprotein glomerulopathy 611771
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
- Isolated complex IV deficiency
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Adenine phosphoribosyltransferase deficiency 614723
- Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Ataxia with oculomotor apraxia 1
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
- Disorders of ubiquinone metabolism and biosynthesis
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ATAXIA WITH OCULOMOTOR APRAXIA 1 208920
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
1 red
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200
- ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Literature
Phenotypes
- Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, OMIM:617164
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Periventricular nodular heterotopia 8, OMIM:618185
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ARF3-related neurodevelopmental disorder
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ARFGEF1-related intellectual disability and epilepsy
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Intellectual disability, MONDO:0001071
- Epilepsy, MONDO:0005027
- Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures, OMIM:619964
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY 608097
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Periventricular heterotopia with microcephaly, 608097
- PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Argininaemia (Urea cycle disorders and inherited hyperammonaemias)
- Argininemia, OMIM:207800
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
-
Research
Phenotypes
- cleft lip with or without cleft palate
- Cleft palate
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- ADAMS-OLIVER SYNDROME 1 100300
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- ADAMS-OLIVER SYNDROME 1
- AOS1
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
Expert Review Green
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
-
Expert list
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Adams-Oliver syndrome 1 100300
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert list
-
Expert Review Green
-
UKGTN
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
London South East RGC GSTT
-
Viapath
Phenotypes
- Adams-Oliver syndrome 1, 100300
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ARHGAP35-related developmental disorder (monoallelic)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
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
-
DD-Gene2Phenotype
Phenotypes
- EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8 300607
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
NHS GMS
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Developmental and epileptic encephalopathy 8, OMIM:300607
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Mental retardation, autosomal dominant 14, 614607
- COFFIN-SIRIS SYNDROME
- CSS
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- COFFIN-SIRIS SYNDROME 135900
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Mental retardation, autosomal dominant 12, 614562
- COFFIN SIRIS SYNDROME
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 135900
- COFFIN SIRIS SYNDROME 135900
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
2 green
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Expert Review Green
Phenotypes
- Coffin-Siris syndrome 6, 617808
- ARID2-Coffin-Siris like disorder
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- ARID2-Coffin-Siris like disorder
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Other
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Other
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
2 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Joubert syndrome 8, 612291
- Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Expert list
Phenotypes
- Joubert syndrome 35, OMIM:61816
- cone-rod dystrophy, MONDO:0015993
- Retinitis pigmentosa 83, OMIM:618173
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
Phenotypes
- {Bardet Biedl syndrome 1, modifier of}
- Bardet-Biedl Syndrome
- 268000
- Bardet Biedl syndrome 3
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Bardet-Biedl syndrome 3, 209900{Bardet-Biedl syndrome 1, modifier of}, 209900Retinitis pigmentosa 55, 613575
- BARDET-BIEDL SYNDROME TYPE 3 (BBS3)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
Phenotypes
- {Bardet Biedl syndrome 1, modifier of}
- Bardet-Biedl Syndrome
- 268000
- Bardet Biedl syndrome 3
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
Phenotypes
- Polydactyly
- Bardet-Biedl syndrome 3 600151
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Polydactyly
- Bardet-Biedl syndrome 3 600151
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- RETINITIS PIGMENTOSA TYPE 55 613575
- BARDET-BIEDL SYNDROME TYPE 3 209900
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CILIARY DYSKINESIA, PRIMARY, 23 615451
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Expert Review Green
Phenotypes
- Joubert syndrome 30, 617622
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Joubert syndrome
- Intellectual Disability
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
Phenotypes
- Joubert syndrome 30, 617622
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ARPC4-related microcephaly and developmental delay
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- ARYLSULFATASE A DEFICIENCY
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Metachromatic leukodystrophy
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ARYLSULFATASE A DEFICIENCY 250100
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- MUCOPOLYSACCHARIDOSIS TYPE 6
- Mucopolysaccharidosis, Type VI
- Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200
- Mucopolysaccharidosis Type VI
- MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MUCOPOLYSACCHARIDOSIS TYPE 6 253200
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
-
Radboud University Medical Center, Nijmegen
-
Expert list
-
Emory Genetics Laboratory
Phenotypes
- Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
- Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- MUCOPOLYSACCHARIDOSIS TYPE 6 (MPS6)
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
Phenotypes
- CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CHONDRODYSPLASIA PUNCTATA 1, X-LINKED 302950
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
NHS GMS
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- CDPXL
- Chondrodysplasia punctata, X-linked recessive, 302950
- CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
- X-linked recessive chondrodysplasia punctata
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
UKGTN
-
Radboud University Medical Center, Nijmegen
-
Expert Review Green
-
London South East RGC GSTT
-
Viapath
Phenotypes
- CDPXL
- Chondrodysplasia punctata, X-linked recessive, 302950
- X-linked recessive chondrodysplasia punctata
- CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
Phenotypes
- Chondrodysplasia punctata, X-linked recessive 302950
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Expert Review Green
-
Literature
Phenotypes
- Epileptic encephalopathy, early infantile, 38
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Emory Genetics Laboratory
Phenotypes
- Epileptic encephalopathy, early infantile, 1, 308350Lissencephaly, X-linked 2, 300215Mental retardation, X-linked 29 and others, 300419Proud syndrome, 300004Partington syndrome, 309510Hydranencephaly with abnormal genitalia, 300215
- MENTAL RETARDATION X-LINKED ARX-RELATED (MRXARX)
Tags
- nucleotide-repeat-expansion
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MENTAL RETARDATION X-LINKED ARX-RELATED 300419
- AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA 300004
- LISSENCEPHALY X-LINKED TYPE 2 300215
- EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 308350
- PARTINGTON SYNDROME 309510
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
Phenotypes
- Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- FARBER LIPOGRANULOMATOSIS 228000
- SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY 159950
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- FARBER LIPOGRANULOMATOSIS
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
- spinal muscular atrophy
- arthrogryposis
- fetal akinesia
- hypotonia
- contractures
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
2 green
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- Mental retardation, autosomal dominant 52, 617796
- intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ARGININOSUCCINATE LYASE DEFICIENCY 207900
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Argininosuccinic aciduria
- Argininosuccinic aciduria (Urea cycle disorders and inherited hyperammonaemias)
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Argininosuccinic aciduria 207900
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Asparagine synthetase deficiency, 615574
- congenital microcephaly, intellectual disability, progressive cerebral atrophy, intractable seizures
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- Asparagine synthetase deficiency, OMIM:615574
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Canavan disease, 271900
- CANAVAN DISEASE
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Microcephaly 5, primary, autosomal recessive, 608716
- PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Citrullinaemia type1 (Urea cycle disorders and inherited hyperammonaemias)
- Citrullinemia
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CITRULLINEMIA TYPE I 615700
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Citrullinemia, 215700
- intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- BOHRING-OPITZ SYNDROME
- BOPS
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Bohring-Opitz syndrome, 605039Myelodysplastic syndrome, somatic, 614286
- BOHRING-OPITZ SYNDROME
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Bohring-Opitz syndrome, 605039
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
Expert Review Green
-
Expert list
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Bohring-Opitz syndrome 605039
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BOHRING-OPITZ SYNDROME 605039
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
NHS GMS
-
Expert Review Green
-
Literature
Phenotypes
- Shashi-Pena syndrome 617190
- Shashi-Pena syndrome 617190
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Developmental delay, macrocephaly, and dysmorphic features
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Expert Review Green
Phenotypes
- Shashi-Pena syndrome 617190
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- Bainbridge-Ropers syndrome, OMIM:615485
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- BAINBRIDGE-ROPERS SYNDROME 615485
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Hyperekplexia 4, OMIM:618011
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Harel-Yoon syndrome 617183
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Expert Review Green
Phenotypes
- Harel-Yoon syndrome, OMIM:617183
- Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810
- Lactic acidosis
- Methylglutaconic aciduria
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy
- ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Literature
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 31, OMIM:619422
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
-
Literature
Phenotypes
- ATG7-related intellectual disability and ataxia, OMIM:619422
- developmental delay
- ataxia
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Intellectual disability
- AICAR transformylase deficiency (Disorders of purine metabolism)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- AICA-ribosiduria due to ATIC deficiency, 608688
- AICA-RIBOSURIA (AICAR)
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ATL1-associated hereditary spastic paraplegia
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- Ataxia-telangiectasia, OMIM:208900
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ATAXIA-TELANGIECTASIA 208900
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
3 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- PARKINSON DISEASE 9 606693
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Renal Hypomagnesemia Refractory Seizures and Intellectual Disability
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
-
Expert Review
Phenotypes
- Hypomagnesemia
- Seizures
- Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Migraine, familial hemiplegic, 2 602481
- Alternating hemiplegia of childhood 1, 104290
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ATP1A2-related epileptic encephalopathy
- MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related
- Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Alternating Hemiplegia of Childhood (AHC), intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- RAPID-ONSET DYSTONIA-PARKINSONISM 128235
- ALTERNATING HEMIPLEGIA OF CHILDHOOD 104290
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
NHS GMS
-
Literature
Phenotypes
- Intellectual developmental disorder, autosomal dominant 66, 619910
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ATP2B1-related neurodevelopmental disorder
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ATP5F1A-related mitochondrial encephalopathy, OMIM:615228
- ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
3 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
Victorian Clinical Genetics Services
Phenotypes
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228
- Combined oxidative phosphorylation deficiency 22, OMIM: 616045
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- ATP5F1D metabolic disorder
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
NHS GMS
Phenotypes
- Mitochondrial complex V (ATP synthase) deficiency, 618120
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
NHS GMS
Phenotypes
- Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
Phenotypes
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
2 green
2 red
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Mental retardation, X-linked, syndromic, Hedera type, 300423
- MENTAL RETARDATION X-LINKED WITH EPILEPSY
- X-linked intellectual disability, Hedera type
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
NHS GMS
-
Literature
Phenotypes
- ATP6V0A1-related developmental disorder (monoallelic)
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ATP6V0A1-related developmental disorder (monoallelic)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Cutis laxa, autosomal recessive, type IIA 219200
- Wrinkly skin syndrome 278250
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Emory Genetics Laboratory
Phenotypes
- Cutis laxa, autosomal recessive, type IIA 219200
- Cutis laxa, autosomal recessive, type IIA 219200
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
- Cutis laxa, autosomal recessive, type IIA 21920
- Wrinkly skin syndrome 278250
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ATP6V0C-related Developmental Disorder
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Autosomal Recessive Cutis Laxa (AR)
- Epileptic encephalopathy, infantile or early childhood, 3 (AD)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Expert Review
-
Literature
Phenotypes
- Developmental and epileptic encephalopathy 93, OMIM:618012
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
-
Expert
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
Phenotypes
- hearing loss
- Distal Renal Tubular Acidosis with Progressive Nerve Deafness
- Renal tubular acidosis with deafness, 267300
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS 267300
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- ZIMMERMANN-LABAND SYNDROME
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
-
Expert Review
Phenotypes
- Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480
- Zimmermann-Laband syndrome 2, OMIM:616455
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- ZIMMERMANN-LABAND SYNDROME
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal Recessive Cutis Laxa
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
NHS GMS
-
Expert Review Green
-
Expert list
-
Emory Genetics Laboratory
-
UKGTN
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Spinal muscular atrophy, distal, 300489
- Menkes disease 309400
- Occipital horn syndrome 304150
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 300489
- OCCIPITAL HORN SYNDROME 304150
- MENKES DISEASE 309400
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Menkes disease, 309400Occipital horn syndrome, 304150Spinal muscular atrophy, distal, X-linked 3, 300489
- OCCIPITAL HORN SYNDROME
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
1 green
3 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM:615268
- cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 MONDO:0014104
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Cholestasis, progressive familial intrahepatic 1 211600
- Cholestasis, benign recurrent intrahepatic 243300 AR
- Cholestasis, intrahepatic, of pregnancy, 1 147480 AD
- Byler disease (Disorders of bile acid metabolism and transport)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS 211600
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ATP9A-related neurodevelopmental disorder
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Other
-
Literature
Phenotypes
- Global developmental delay
- Intellectual disability
- Postnatal microcephaly
- Failure to thrive
- Abnormality of the abdomen
- Neurodevelopmental disorder with poor growth and behavioral abnormalities, OMIM:620242
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
- Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Mitochondrial Diseases
- Isolated complex V deficiency
- Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- SECKEL SYNDROME TYPE 1 210600
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Seckel syndrome 1, 210600Cutaneous telangiectasia and cancer syndrome, familial, 614564
- SECKEL SYNDROME TYPE 1 (SCKL1)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Alpha-thalassemia/mental retardation syndrome, 301040
- Mental retardation-hypotonic facies syndrome, X-linked, 309580
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 309580
- ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE 301040
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- 3-METHYLGLUTACONIC ACIDURIA TYPE 1 250950
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- 3-methylglutaconic aciduria, type I
- Methylglutaconic aciduria type I (Organic acidurias)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- 3-methylglutaconic aciduria, type I, 250950
- 3-METHYLGLUTACONIC ACIDURIA TYPE 1
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- SYNDROMIC INTELLECTUAL DISABILITY
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- SYNDROMIC INTELLECTUAL DISABILITY 612100
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 615181
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Emory Genetics Laboratory
Phenotypes
- Ehlers-Danlos syndrome, progeroid type, 2 615349
- Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Ehlers-Danlos syndrome, progeroid type, 2
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1 271640
- EHLERS-DANLOS SYNDROME 130070
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600
- B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600
- Larsen alike phenotype (skd incl)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Peters-plus syndrome 261540
- O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Peters-plus syndrome, 261540
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Peters-plus syndrome 261540
- O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Spastic paraplegia 26, autosomal recessive, OMIM:609195
- Hereditary spastic paraplegia 26, MONDO:0012213
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review
Phenotypes
- Spastic paraplegia 26, autosomal recessive OMIM:609195
- hereditary spastic paraplegia 26 MONDO:0012213
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Congenital disorder of glycosylation, type IId, OMIM:607091
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId, OMIM:607091
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Ehlers-Danlos syndrome, progeroid type, 1, 130070
- EHLERS-DANLOS SYNDROME PROGEROID TYPE (EDSP)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Expert list
-
Emory Genetics Laboratory
Phenotypes
- Ehlers-Danlos syndrome with short stature and limb anomalies 130070
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Ehlers-Danlos syndrome with short stature and limb anomalies 130070
- B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
- B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- Beta-1,4-galactosyltransferase 7 deficiency (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- EHLERS-DANLOS SYNDROME PROGEROID TYPE 130070
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Illumina TruGenome Clinical Sequencing Services
-
Expert Review Green
-
Orphanet
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Expert list
-
Emory Genetics Laboratory
Phenotypes
- Joubert syndrome 34, OMIM:614175
- Meckel syndrome 10, OMIM:614175
- Meckel syndrome, type 10, MONDO:0013609
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Joubert syndrome 34, OMIM:614175
- Meckel syndrome 10, OMIM:614175
- Meckel syndrome, type 10, MONDO:0013609
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Joubert syndrome 34, OMIM:614175
- Meckel syndrome 10, OMIM:614175
- Meckel syndrome, type 10, MONDO:0013609
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Illumina TruGenome Clinical Sequencing Services
-
Expert Review Green
-
Orphanet
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Expert list
-
Emory Genetics Laboratory
Phenotypes
- Joubert syndrome 34, OMIM:614175
- Meckel syndrome 10, OMIM:614175
- Meckel syndrome, type 10, MONDO:0013609
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Hypercholanemia, familial
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- NESTOR-GUILLERMO PROGERIA SYNDROME 614008
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BAP1-associated neurodevelopmental syndrome
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
NHS GMS
-
Literature
Phenotypes
- Kury-Isidor syndrome, OMIM:619762
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
Phenotypes
- Bardet-Biedl syndrome 1 OMIM:209900
- Bardet-Biedl syndrome 1 MONDO:0008854
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
Phenotypes
- Bardet Biedl syndrome 13
- 268000
- Bardet Biedl syndrome 1
- Bardet Biedl syndrome 11
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Bardet-Biedl syndrome 1 OMIM:209900
- Bardet-Biedl syndrome 1 MONDO:0008854
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
Phenotypes
- Polydactyly
- Bardet-Biedl syndrome 1 OMIM:209900
- Bardet-Biedl syndrome 1 MONDO:0008854
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Polydactyly
- Bardet-Biedl syndrome 1 OMIM:209900
- Bardet-Biedl syndrome 1 MONDO:0008854
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- Bardet-Biedl syndrome 1 OMIM:209900
- Bardet-Biedl syndrome 1 MONDO:0008854
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
Phenotypes
- Polydactyly
- Bardet Biedl syndrome 10, 615987
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Polydactyly
- Bardet Biedl syndrome 10, 615987
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BARDET-BIEDL SYNDROME TYPE 10 209900
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Bardet-Biedl syndrome 10, 209900
- BARDET-BIEDL SYNDROME TYPE 10 (BBS10)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BARDET-BIEDL SYNDROME TYPE 12 209900
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Bardet-Biedl syndrome 12, 209900
- BARDET-BIEDL SYNDROME TYPE 12 (BBS12)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Polydactyly
- Bardet Biedl syndrome 12, 615989
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
Phenotypes
- Polydactyly
- Bardet Biedl syndrome 12, 615989
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BARDET-BIEDL SYNDROME TYPE 2 209900
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Bardet-Biedl syndrome 2, 209900
- BARDET-BIEDL SYNDROME TYPE 2 (BBS2)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Polydactyly
- Bardet-Biedl syndrome 2, 615981
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
Phenotypes
- Polydactyly
- Bardet-Biedl syndrome 2, 615981
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BARDET-BIEDL SYNDROME TYPE 4 209900
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Polydactyly
- Bardet-Biedl syndrome 4, 615982
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
Phenotypes
- Polydactyly
- Bardet-Biedl syndrome 4, 615982
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Bardet-Biedl syndrome 4, 209900
- BARDET-BIEDL SYNDROME TYPE 4 (BBS4)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Bardet-Biedl syndrome 5, 209900
- BARDET-BIEDL SYNDROME TYPE 5 (BBS5)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Polydactyly
- Bardet Biedl syndrome 5, 615983
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
Phenotypes
- Polydactyly
- Bardet Biedl syndrome 5, 615983
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BARDET-BIEDL SYNDROME TYPE 5 209900
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Bardet-Biedl syndrome 7, 209900
- BARDET-BIEDL SYNDROME TYPE 7 (BBS7)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BARDET-BIEDL SYNDROME TYPE 7 209900
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
Phenotypes
- Polydactyly
- Bardet-Biedl syndrome 7, 615984
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Polydactyly
- Bardet-Biedl syndrome 7, 615984
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BARDET-BIEDL SYNDROME TYPE 9 209900
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
Phenotypes
- Polydactyly
- Bardet Biedl syndrome 9, 615986
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Polydactyly
- Bardet Biedl syndrome 9, 615986
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Bardet-Biedl syndrome 9, 209900
- BARDET-BIEDL SYNDROME TYPE 9 (BBS9)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
Phenotypes
- DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BCAS3-related neurodevelopmental disorder with thinning of corpus callosum and cerebellar atrophy
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Syndromic neurodevelopmental disorder
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
Phenotypes
- Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Maple syrup urine disease, type Ia
- BCKD E1 alpha subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MAPLE SYRUP URINE DISEASE 248600
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Maple syrup urine disease, type Ia, 248600
- MAPLE SYRUP URINE DISEASE
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Maple syrup urine disease, type Ib, 248600
- MAPLE SYRUP URINE DISEASE
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MAPLE SYRUP URINE DISEASE 248600
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Maple syrup urine disease, type Ib
- BCKD E1 beta subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Branched-chain ketoacid dehydrogenase kinase deficiency
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Literature
Phenotypes
- Branched-chain ketoacid dehydrogenase kinase deficiency, 614923
- Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Intellectual disability
- Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BCL11B-related developmental disorder (monoallelic)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MICROPHTHALMIA SYNDROMIC TYPE 2 300166
Tags
|
Green
Green List (high evidence)
|
|
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
Phenotypes
- MICROPHTHALMIA, SYNDROMIC 2
- MCOPS2
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Microphthalmia, syndromic 2, 300166
- MICROPHTHALMIA SYNDROMIC TYPE 2 (MCOPS2)
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
2 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Mitochondrial complex III deficiency, nuclear type 1, 124000
- Leigh syndrome, 256000
- Bjornstad syndrome, 262000
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert
Phenotypes
- #124000:Mitochondrial complex III deficiency, nuclear type 1
- #256000:Leigh syndrome
- #262000:Bjornstad syndrome
- #603358:GRACILE syndrome
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Mitochondrial Diseases
- Isolated complex III deficiency
- Mitochondrial Respiratory Chain Complex III Deficiency
- Mitochondrial complex III deficiency, nuclear type 1, 124000
- Leigh syndrome, 256000
- Bjornstad syndrome, 262000
- GRACILE syndrome, 603358
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED 611597
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Severe syndromic form of thoracic aortic aneurysm & dissection
- X-Linked Spondyloepimetaphyseal Dysplasia
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert list
-
Expert Review Green
-
London South East RGC GSTT
-
Viapath
Phenotypes
- Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432
- Polydactyly
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Expert list
Phenotypes
- Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- SPLIT HAND AND FOOT MALFORMATION 220600
- MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE 69432
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BICRA-related Developmental Disorder
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CENTRONUCLEAR MYOPATHY 2 255200
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
3 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Bloom syndrome, OMIM:210900
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Literature
Phenotypes
- severe intellectual disability
- severe global developmental delay
- epilepsy
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- HERMANSKY-PUDLAK SYNDROME 9 614171
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Expert
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Osteogenesis imperfecta, type XIII, 614856
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
London South East RGC GSTT
-
Viapath
Phenotypes
- Brachydactyly, type A2 112600
- Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 617877
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Short stature, palatal anomalies, congenital heart disease, and skeletal malformations
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
UKGTN
Phenotypes
- short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.
- Brachydactyly, type A2 112600
- {HFE hemochromatosis, modifier of} 235200
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Cleft palate
- Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Expert Review Green
-
BRIDGE study SPEED NEURO Tier1 Gene
-
BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Microphthalmia, syndromic 6 607932
- Global developmental delay
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Polydactyly
- Microphthalmia, syndromic 6 607932
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MICROPHTHALMIA, SYNDROMIC 6 607932
- OROFACIAL CLEFT 11 600625
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
Phenotypes
- Diaphanospondylodysostosis 608022
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- DIAPHANOSPONDYLODYSOSTOSIS 608022
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
-
Expert list
Phenotypes
- Acromesomelic dysplasia, Demirhan type, OMIM:609441
- Brachydactyly, type A1, D, OMIM:616849
- Brachydactyly, type A2, OMIM:112600
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert list
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Expert Review Green
-
London South East RGC GSTT
-
Viapath
Phenotypes
- Acromesomelic dysplasia, Demirhan type, OMIM:609441
- Brachydactyly, type A1, D, OMIM:616849
- Brachydactyly, type A2, OMIM:112600
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BRACHYDACTYLY TYPE A2 112600
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Congenital Lower Urinary Tract Obstruction
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 614299
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366)
- Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple mitochondrial dysfunctions syndrome 2, 614299
- Multiple Mitochondrial Dysfunctions Syndrome
- Disorders of iron homeostasis
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Literature
Phenotypes
- Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755
- intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Melanoma, malignant, somaticColorectal cancer, somaticAdenocarcinoma of lung, somatic, 211980Nonsmall cell lung cancer, somaticCardiofaciocutaneous syndrome, 115150Noonan syndrome 7, 613706LEOPARD syndrome 3, 613707
- NOONAN SYNDROME TYPE 7 (NS7)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- LEOPARD SYNDROME TYPE 3 613707
- NOONAN SYNDROME TYPE 7 613706
- CARDIOFACIOCUTANEOUS SYNDROME 115150
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME 614498
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- INTELLECTUAL DISABILITY 616579
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Fanconi anemia, complementation group D1, OMIM:605724
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1 605724
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Expert Review
-
Literature
Phenotypes
- Intellectual disability
- Microcephaly
- Abnormal heart morphology
- Abnormality of the face
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- CORNELIA DE LANGE-LIKE SYNDROME
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Literature
Phenotypes
- Cerebellofaciodental syndrome, 616202
- intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BRF1-related cerebellofaciodental syndrome, OMIM:616202
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Fanconi anemia, complementation group J, OMIM:609054
- Radial ray abnormality
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- FANCONI ANEMIA, COMPLEMENTATION GROUP J 609054
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BRPF1 associated syndromic intellectual disability with ptosis
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Expert Review Green
-
BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Intellectual developmental disorder with dysmorphic facies and ptosis 617333
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review
-
Expert Review Green
-
Expert Review
-
Literature
Phenotypes
- Global developmental delay
- Autism
- Behavioral abnormality
- Global developmental delay, Intellectual disability, Autism, Behavioral abnormality
- Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Neurodevelopmental Disorder
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MENTAL RETARDATION X-LINKED TYPE 93 300659
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
Phenotypes
- Mental Retardation, X-linked
- Mental retardation, X-linked 93, 300659
- MENTAL RETARDATION X-LINKED TYPE 93 (MRX93)
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
2 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924
- Lipodystrophy, congenital generalized, type 2, OMIM:269700
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
Phenotypes
- hearing loss
- Bartter syndrome, type 4a, 602522
- #602522:Sensorineural deafness with mild renal dysfunction
- Barttersyndrome,type4a, 602522
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BARTTER SYNDROME TYPE 4A 602522
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Biotinidase deficiency (Disorders of biotin metabolism)
- Biotinidase deficiency
- lactic acidosis with seizures and eczema,immune deficiency
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BIOTINIDASE DEFICIENCY 253260
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Biotinidase deficiency, 253260
- BIOTINIDASE DEFICIENCY
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BUB1-related microcephaly and developmental disorder
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Literature
Phenotypes
- Microcephaly 30, primary, autosomal recessive, OMIM:620183
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Colorectal cancer, somatic, 114500Mosaic variegated aneuploidy syndrome 1, 257300[Premature chromatid separation trait], 176430
- MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
- MVA1
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 257300
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- PRIMARY CILIARY DYSKINESIA
Tags
- gene-checked
- new-gene-name
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Literature
Phenotypes
- Autosomal recessive intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Temtamy syndrome, 218340
- TEMTAMY SYNDROME
- COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY 218340
- TEMTAMY SYNDROME
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 613559
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Combined oxidative phosphorylation deficiency 7, OMIM:613559
- Spastic paraplegia 55, autosomal recessive, OMIM:615035
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Combined oxidative phosphorylation deficiency 7, OMIM:613559
- Spastic paraplegia 55, autosomal recessive, OMIM:615035
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
1 green
3 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- ?Spastic paraplegia 43, autosomal recessive, OMIM:615043
- Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
NHS GMS
Phenotypes
- Combined oxidative phosphorylation deficiency 37, 618329
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
-
Literature
-
Expert list
Phenotypes
- Combined oxidative phosphorylation deficiency 33 617713
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Literature
-
Expert list
Phenotypes
- Spondylometaphyseal dysplasia, axial 602271
- Axial Spondylometaphyseal Dysplasia 602271
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Expert list
Phenotypes
- Jeune asphyxiating thoracic dystrophy (JATD)
- Jeune Syndrome
- Spondylometaphyseal dysplasia, axial, 602271
- Retinal dystrophy with macular staphyloma, 617547
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Expert list
Phenotypes
- Jeune asphyxiating thoracic dystrophy (JATD)
- Jeune Syndrome
- Spondylometaphyseal dysplasia, axial, 602271
- Retinal dystrophy with macular staphyloma, 617547
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- Axial Spondylometaphyseal Dysplasia
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- PRIMARY CILIARY DYSKINESIA
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- OROFACIODIGITAL SYNDROME XIV 615948
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
UKGTN
-
Expert list
Phenotypes
- Orofaciodigital syndrome XIV 615948
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Orofaciodigital syndrome XIV, 615948
- Joubert-related disorder
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- OROFACIODIGITAL SYNDROME XIV
- OFD14
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- short-rib polydactyly syndromes (SRPS
- MIM208500)
- MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD
- ?Orofaciodigital syndrome XIV, 615948
- Orofaciodigital syndromes (OFDS, MIM 311200)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Radboud University Medical Center, Nijmegen
Phenotypes
- short-rib polydactyly syndromes (SRPS
- MIM208500)
- MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD
- ?Orofaciodigital syndrome XIV, 615948
- Orofaciodigital syndromes (OFDS, MIM 311200)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Literature
Phenotypes
- Combined oxidative phosphorylation deficiency 53, OMIM:619423
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- RETINITIS PIGMENTOSA 54 613428
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Other
Phenotypes
- Joubert syndrome
- Oral-facial-digital syndrome type VI
- Joubert syndrome 17
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Joubert syndrome
- Oral-facial-digital syndrome type VI
- Joubert syndrome 17
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- OROFACIODIGITAL SYNDROME VI
- OFD6
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Other
Phenotypes
- Joubert syndrome
- Oral-facial-digital syndrome type VI
- Joubert syndrome 17
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CONE-ROD DYSTROPHY 16 614500
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Other
Phenotypes
- Bardet-Biedl syndrome 21, OMIM:617406, MONDO:0044308
- Cone-rod dystrophy 16, OMIM:614500, MONDO:0013786
- Retinitis pigmentosa 64, OMIM:614500, MONDO:0019200
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730
- OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 (OPTB3)
- carbonic anhydrase II deficiency
- intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 259730
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
Phenotypes
- Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Hyperammonemia due to carbonic anhydrase VA deficiency
- Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY 615751
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 613227
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227
- CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 (CMARQ3)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Deafness, autosomal recessive 93, 614899
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
2 green
2 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Expert Review Green
Phenotypes
- Developemental and epileptic encephalopathy 42, OMIM:617106
- developmental and epileptic encephalopathy, 42, MONDO:0014917
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS 618497
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review
-
Expert Review Green
-
Expert Review
-
Literature
Phenotypes
- Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497
- Progressive Epilepsy-Dyskinesia
- Seizures
- Abnormality of movement
- Intellectual disability
- Developmental regression
- Global developmental delay
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
2 green
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Timothy syndrome, OMIM:601005
- Timothy syndrome, MONDO:0010979
- Long QT syndrome 8, OMIM:618447
- long qt syndrome 8, MONDO:0032756
- Brugada syndrome 3, OMIM:611875
- Brugada syndrome 3, MONDO:0012742
- CACNA1C-related disorder
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- Timothy syndrome, OMIM:601005
- Timothy syndrome, MONDO:0010979
- CACNA1C-related disorder
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 615474
- SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 614896
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
Phenotypes
- Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD
- Sinoatrial node dysfunction and deafness 614896 AR
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
-
Expert Review
Phenotypes
- Global developmental delay
- Intellectual disability
- Seizures
- Dystonia
- Congenital contracture
- Macrocephaly
- Epileptic encephalopathy, early infantile, 69, 618285
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
3 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- Spinocerebellar ataxia 42 616795
- Cerebellar atrophy, epilepsy, intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- AUTOSOMAL RECESSIVE MENTAL RETARDATION
- CACNA1G-related developmental disorder (monoallelic)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Neurodevelopmental disorder with speech impairment and with or without seizures, OMIM:620114
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Other
-
Literature
Phenotypes
- Abnormal muscle tone
- Feeding difficulties
- Global developmental delay
- Intellectual disability
- Seizures
- Microcephaly
- Abnormality of the corpus callosum
- Cerebral atrophy
- Abnormality of movement
- Cortical visual impairment
- Pain insensitivity
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Literature
Phenotypes
- Developmental and epileptic encephalopathy 50, OMIM:616457
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- Uridine-responsive epileptic encephalopathy
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
1 green
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Expert Review Green
Phenotypes
- Mental retardation, autosomal dominant 53, OMIM:617798
- ?Mental retardation, autosomal recessive 63, OMIM:618095
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Expert Review Green
-
Literature
Phenotypes
- Mental retardation, autosomal dominant 54, OMIM:617799
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- INTELLECTUAL DEVELOPMENTAL DISORDER 59, OMIM:618522
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Other
-
Literature
Phenotypes
- Global developmental delay
- Intellectual disability
- Autism
- Behavioral abnormality
- Abnormality of movement
- Dystonia
- Ataxia
- Chorea
- Myoclonus
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CAMSAP1-associated neuronal migration disorder
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 614756
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- Desbuquois dysplasia 1, OMIM:251450
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Expert list
-
UKGTN
-
Emory Genetics Laboratory
Phenotypes
- Desbuquois dysplasia 1 251450
- multiple epiphyseal dysplasia type 7, 617719.
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318
Tags
|
Green
Green List (high evidence)
|
|
8 reviews
3 green
3 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
NHS GMS
Phenotypes
- Global developmental delay
- Delayed speech and language development
- Intellectual disability
- Autistic behaviour
- Seizures
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- AUTISM OR INTELLECTUAL DISABILITY
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Microcephaly Developmental Delay and Brittle Hair and Nails
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review
-
Expert Review Green
-
Expert Review
-
Literature
Phenotypes
- Microcephaly, developmental delay, and brittle hair syndrome, OMIM:618891
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- No OMIM phenotype
- Combined oxidative phosphorylation deficiency 27 616672
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Epileptic encephalopathy with complex movement disorder and regression
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MENTAL RETARDATION X-LINKED CASK-RELATED 300749
- FG SYNDROME TYPE 4 300422
- MRX WITH/WITHOUT NYSTAGMUS 300749
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749FG syndrome 4, 300422Mental retardation, with or without nystagmus, 300422
- MENTAL RETARDATION X-LINKED CASK-RELATED (MRXCASK)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Emory Genetics Laboratory
Phenotypes
- Hypocalcemia, autosomal dominant 601198
- Hypocalciuric hypercalcemia, type I 145980
- Hyperparathyroidism, neonatal 239200
- Hypocalcemia, autosomal dominant, with Bartter syndrome 601198
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Acatalasaemia (Other peroxisomal disorders)
- Acatalasemia, 614097
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA 613563
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563
- NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Homocystinuria, B6-responsive and nonresponsive types, 236200
- Thrombosis, hyperhomocysteinemic, 236200
- CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (CBSD)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Homocystinuria, B6-responsive and nonresponsive types
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CYSTATHIONINE BETA-SYNTHASE DEFICIENCY 236200
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Literature
Phenotypes
- intellectual disability
- cerebellar ataxia
- molar tooth sign
- polydactyly
- Joubert syndrome
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 608443
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Mental retardation, autosomal recessive 3, 608443
- MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 (MRT3)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Joubert syndrome 9, 612285Meckel syndrome 6, 612284COACH syndrome, 216360
- MECKEL SYNDROME, TYPE 6
- MKS6
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Orphanet
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
-
Other
Phenotypes
- Joubert syndrome 9
- COACH syndrome
- Joubert syndrome with oculorenal defect
- Meckel syndrome 6
- Meckel syndrome
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Meckel syndrome 6, 612284
- MKS6
- Meckel-Gruber syndrome
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Joubert syndrome 9
- COACH syndrome
- Joubert syndrome with oculorenal defect
- Meckel syndrome 6
- Meckel syndrome
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Orphanet
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
-
Other
Phenotypes
- Joubert syndrome 9
- COACH syndrome
- Joubert syndrome with oculorenal defect
- Meckel syndrome 6
- Meckel syndrome
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- JOUBERT SYNDROME 9 612285
- COACH SYNDROME 216360
- MECKEL SYNDROME, TYPE 6 612284
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
UKGTN
-
Expert list
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 235510
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Hennekam lymphangiectasia-lymphedema syndrome, 235510
- HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME (HLLS)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- PRIMARY CILIARY DYSKINESIA
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- PRIMARY CILIARY DYSKINESIA
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Congenital disorder of glycosylation, type IIo 616828
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- Disorder of Golgi homeostasis
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- PRIMARY CILLARY DYSKINEASIA 616037
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- SYNDROMIC X-LINKED INTELLECTUAL DISABILITY
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Emory Genetics Laboratory
Phenotypes
- SYNDROMIC X-LINKED INTELLECTUAL DISABILITY
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CCDC32-associated neurodevelopmental syndrome
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Literature
Phenotypes
- Cardiofacioneurodevelopmental syndrome, OMIM:619123
- cardiofacioneurodevelopmental syndrome, MONDO:0030873
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CILIARY DYSKINESIA, PRIMARY, 14 613807
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CILIARY DYSKINESIA, PRIMARY, 15 613808
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Woolly Hair Liver Dysfunction Dysmorphic Features and Global Developmental Delay
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Woolly hair
- Abnormality of the liver
- Global developmental delay
- Intellectual disability
- Trichohepatoneurodevelopmental syndrome, 618268
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Expert
-
UKGTN
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Deafness, autosomal dominant 44, 607453
- hearing loss
- #607453:?Deafness, autosomal dominant 44
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- PRIMARY CILIARY DYSKINESIA
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES 614807
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- THREE M SYNDROME 3 614205
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Literature
Phenotypes
- neurodevelopmental disorder, MONDO:0700092
- intellectual disability, MONDO:0001071
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 236600
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
-
BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- ?Spinocerebellar ataxia 40 616053 AD
- Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 603387
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Polydactyly
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CILIARY DYSKINESIA, PRIMARY, 29 615872
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS 609057
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Deafness, autosomal recessive 32, with or without immotile sperm, OMIM:608653
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CDC42-related Neurodevelopmental Disorder
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Literature
Phenotypes
- Takenouchi-Kosaki syndrome, 616737
- Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- Meier-Gorlin Syndrome and Craniosynostosis
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Expert list
Phenotypes
- Craniosynostosis (Wilkie) (from Ana Beleza)
- Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MEIER-GORLIN SYNDROME 5 613805
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Other
-
Expert Review Green
Phenotypes
- BLEPHAROCHEILODONTIC
- Blepharocheilodontic syndrome 1
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Blepharo-cheiro-dontic syndrome
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CDH11-related, OMIM:211380
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Literature
-
Expert Review Green
-
Expert Review Green
-
Literature
Phenotypes
- Elsahy-Waters syndrome, OMIM:211380
- Teebi hypertelorism syndrome
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929
- Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929
- Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- USHER SYNDROME TYPE 1D 601067
- DEAFNESS AUTOSOMAL RECESSIVE TYPE 12 601386
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- hearing loss
- Usher syndrome, type 1D, 601067
- Deafness, autosomal recessive 12, 601386
- Usher syndrome, type 1D/F digenic, 601067
- Nonsyndromic Hearing Loss, Recessive
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
-
Expert list
Phenotypes
- Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- EEM SYNDROME 225280
- HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Al Kaissi syndrome, 617694
- intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Expert Review Green
-
BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Congenital heart defects, dysmorphic facial features, and intellectual development disorder 617360
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CDK19-associated Intellectual Disability and Epileptic Encephalopathy
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
Expert Review Green
-
Literature
-
Literature
Phenotypes
- Epileptic encephalopathy, early infantile, 87 618916
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Microcephaly 3, primary, autosomal recessive, 604804
- PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
1 green
3 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- Intellectual developmental disorder with hypotonia and behavioral abnormalities, OMIM:618748
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- SYNDROMIC INTELLECTUAL DISABILITY
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 300672
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Epileptic encephalopathy, early infantile, 2, 300672Angelman syndrome-like, 105830
- EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 (EIEE2)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
|
Sources
Phenotypes
- BECKWITH-WIEDEMANN SYNDROME
- BWS
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BECKWITH-WIEDEMANN SYNDROME 130650
- IMAGe Syndrome
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
|
Sources
-
NHS GMS
-
Expert Review Green
-
Expert list
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Emory Genetics Laboratory
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- HOLOPROSENCEPHALY 11 614226
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Holoprosencephaly 11, 614226
- HOLOPROSENCEPHALY 11
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
UKGTN
-
Expert list
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Meier-Gorlin syndrome 4 613804
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MEIER-GORLIN SYNDROME 4 613804
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Literature
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
NHS GMS
-
Literature
Phenotypes
- Multiple congenital anomalies
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
1 green
2 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- #614614:?Deafness, autosomal dominant 4B
- Sensorineural hearing loss, progressive bilateral postlingual
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CELF2-related neurodevelopmental disorder
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
NHS GMS
-
Literature
Phenotypes
- Developmental and epileptic encephalopathy 97, OMIM:619561
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Stromme syndrome, 243605
- Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Orphanet
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Stromme syndrome, OMIM:243605
- Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Other
Phenotypes
- Stromme syndrome 243605
- Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Orphanet
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Stromme syndrome, 243605
- Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Polydactyly
- Stromme syndrome 243605
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- SECKEL SYNDROME TYPE 4 613676
- MICROCEPHALY PRIMARY TYPE 6 608393
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Microcephaly 6, primary, autosomal recessive, 608393Seckel syndrome 4, 613676
- MICROCEPHALY PRIMARY TYPE 6 (MCPH6)
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Joubert syndrome 25, 616781
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Other
Phenotypes
- Joubert syndrome 25, 616781
- Joubert syndrome 25
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Joubert syndrome 25, 616781
- Joubert syndrome 25
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Other
Phenotypes
- Joubert syndrome 25, 616781
- Joubert syndrome 25
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- Joubert syndrome 25, 616781
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
UKGTN
-
Expert list
Phenotypes
- Joubert syndrome 213300
- Short-rib thoracic dysplasia 13 with or without polydactyly 616300
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Orphanet
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Expert list
-
Other
-
Expert Review Green
Phenotypes
- Short-rib thoracic dysplasia 13 with or without polydactyly
- Jeune syndrome
- Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel
- Short-rib thoracic dysplasia 13 with or without polydactyly, 616300
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Joubert syndrome 31 (617761)
- Short-rib thoracic dysplasia 13 with or without polydactyly (616300)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Microcephaly 8, primary, autosomal recessive, 614673
- PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION 614673
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MICROCEPHALY PRIMARY TYPE 4 604321
- SECKEL SYNDROME TYPE 5 613823
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Microcephaly 9, primary, autosomal recessive, 614852Seckel syndrome 5, 613823
- MICROCEPHALY PRIMARY TYPE 4 (MCPH4)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Orphanet
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Expert list
-
Emory Genetics Laboratory
Phenotypes
- ciliopathies
- Nephronophthisis 15
- Senior-Loken syndrome
- Nephronophthisis 15, 614845
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Orphanet
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Expert list
-
Emory Genetics Laboratory
Phenotypes
- ciliopathies
- Nephronophthisis 15
- Senior-Loken syndrome
- Nephronophthisis 15, 614845
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Cone-rod dystrophy and hearing loss 2, OMIM:618358, MONDO:0020780
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- 610189
- Meckel syndrome 4
- Senior-Loken syndrome
- 611755
- Joubert syndrome 5
- Joubert syndrome with oculorenal defect
- 610188
- Senior-Loken syndrome 6
- 611134
- Meckel syndrome
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Orphanet
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
-
Other
Phenotypes
- 610189
- Meckel syndrome 4
- Senior-Loken syndrome
- 611755
- Joubert syndrome 5
- Joubert syndrome with oculorenal defect
- 610188
- Senior-Loken syndrome 6
- 611134
- Meckel syndrome
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Orphanet
-
Eligibility statement prior genetic testing
-
Expert list
-
Expert Review Green
-
Other
Phenotypes
- 610189
- Meckel syndrome 4
- Senior-Loken syndrome
- 611755
- Joubert syndrome 5
- Joubert syndrome with oculorenal defect
- 610188
- Senior-Loken syndrome 6
- 611134
- Meckel syndrome
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BARDET-BIEDL SYNDROME TYPE 14 209900
- LEBER CONGENITAL AMAUROSIS TYPE 10 611755
- JOUBERT SYNDROME TYPE 5 610188
- SENIOR-LOKEN SYNDROME TYPE 6 610189
- MECKEL SYNDROME TYPE 4 611134
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Joubert syndrome 5, 610188Senior-Loken syndrome 6, 610189Leber congenital amaurosis 10, 611755Meckel syndrome 4, 611134Bardet-Biedl syndrome 14, 209900
- BARDET-BIEDL SYNDROME TYPE 14 (BBS14)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
Expert list
-
UKGTN
-
Emory Genetics Laboratory
Phenotypes
- Meckel syndrome 4 611134
- Senior-Loken syndrome 6 610189
- Joubert syndrome 5 610188
- Bardet-Biedl syndrome 14 615991
- Leber congenital amaurosis 10
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- JOUBERT SYNDROME 15 614464
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Other
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Joubert syndrome 15, 614464
- JOUBERT SYNDROME 15
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Other
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- microcephaly, delayed development, and bilateral toe syndactyly
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- microcephaly, developmental delay and bilateral toe syndactyly
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 614114
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Other
Phenotypes
- Cone-Rod Dystrophy and Hearing Loss
- CRDHL
- OMIM: 617236
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Orphanet
-
Expert Review Green
-
Expert list
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Nephronophthisis 18 615862
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CEP85L-associated posterior-predominant lissencephaly, OMIM:618873
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
NHS GMS
Phenotypes
- Lissencephaly 10, OMIM:618873
- Lissencephaly 10, MONDO:0030031
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
South West GLH
Phenotypes
- Heterotaxy, visceral, 6, autosomal recessive
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Heterotaxy, visceral, 2, autosomal 605376
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS 319372
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- NEMALINE MYOPATHY 7 610687
T |