Green
Green List (high evidence)
|
|
1 review
|
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
-
Expert Review Amber
-
BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
- Triple-A syndrome, MONDO:0009279
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)
|
|
1 review
|
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)
|
|
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
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Tangier disease (Disorders of high density lipoprotein metabolism)
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
|
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
|
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)
|
|
4 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
- Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- congenital cerebellar hypoplasia/atrophy (PMID: 26242992).
- Anemia, sideroblastic, with ataxia
- Disorders of iron homeostasis
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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)
|
|
1 review
|
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)
|
|
2 reviews
|
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)
|
|
6 reviews
2 green
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
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
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)
|
|
1 review
|
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)
|
|
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)
|
|
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CHANARIN-DORFMAN SYNDROME 275630
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)
|
|
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)
|
|
1 review
|
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)
|
|
1 review
|
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
-
Expert Review Red
-
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY 201470
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
NHS GMS
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Acyl-CoA dehydrogenase, short-chain, deficiency of
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Expert Review Amber
-
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
-
Expert Review Red
-
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)
|
|
1 review
|
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)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
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)
|
|
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)
|
|
1 review
|
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)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ALPHA-METHYLACETOACETIC ACIDURIA 203750
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Infantile cerebellar-retinal degeneration, 614559
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- INFANTILE CEREBELLAR-RETINAL DEGENERATION
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
- Peroxisomal acyl-CoA oxidase deficiency, 264470
- ADRENOLEUKODYSTROPHY PSEUDONEONATAL (PSEUDO-NALD)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
- Peroxisomal acyl-CoA oxidase 1 deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 607944
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
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, 300387
- ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS (ATS-MR)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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)
|
|
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
-
DD-Gene2Phenotype
Phenotypes
- BARAITSER-WINTER SYNDROME
- ACTB Haploinsufficiency syndtome
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)
|
|
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)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BARAITSER-WINTER 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
- Global developmental delay
- Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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)
|
|
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)
|
|
1 review
|
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
-
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
|
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
-
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)
|
|
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
|
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
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
- Dyschromatosis symmetrica hereditaria, 127400Aicardi-Goutieres syndrome 6, 615010
- DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Expert Review
Phenotypes
- Mental retardation, autosomal recessive 36, 615286
- MRT36
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- LETHAL CONGENITAL CONTRACTURE SYNDROME 9 616503
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Expert Review Red
-
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)
|
|
1 review
|
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)
|
|
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ADENYLOSUCCINASE DEFICIENCY 103050
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)
|
|
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)
|
|
1 review
|
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)
|
|
1 review
|
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)
|
|
6 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- CORNELIA DE LANGE-LIKE SYNDROME
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Spastic ataxia 5, autosomal recessive, 614487
Tags
|
Green
Green List (high evidence)
|
|
3 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
- Ataxia, spastic, 5, autosomal recessive, 614487
- Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Spinocerebellar ataxia 28, 610246
- Disorders of mitochondrial DNA maintenance and integrity
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
-
Expert list
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
-
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)
|
|
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- 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)
|
|
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)
|
|
6 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Rhizomelic chondrodysplasia punctata, type 3, 600121
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- HYPEROXALURIA, PRIMARY, TYPE 1 259900
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)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- XIA-GIBBS SYNDROME 615829
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)
|
|
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
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
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
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
- Combined oxidative phosphorylation deficiency 6, 300816Cowchock syndrome, 310490
- COWCHOCK SYNDROME
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, 260600
- LEUKODYSTROPHY, HYPOMYELINATING, 3
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- LEBER CONGENITAL AMAUROSIS 4 604393
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 240300
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 235555
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
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, 603387
- HEMIMEGALENCEPHALY AKT3
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- ACUTE HEPATIC PORPHYRIA 612740
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)
|
|
1 review
|
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)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Hypoprolinaemia, Cutis laxa, autosomal recessive, type IIIa (Disorders of ornithine or proline metabolism)
- Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150
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
|
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
- Intellectual disability
- Sj gren - Larsson syndrome (Other disorders of lipid and lipoprotein metabolism)
- Inherited white matter disorders
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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, 270200
- SJOEGREN-LARSSON SYNDROME (SLS)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY 271980
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
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, 271980
- SUCCINATE SEMIALDEHYDE DEHYDROGENASE 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
- Methylmalonate semialdehyde dehydrogenase deficiency 614105
- 3-Hydroxyisobutyric aciduria (Organic acidurias)
- Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias)
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- PYRIDOXINE-DEPENDENT EPILEPSY 266100
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- GLYCOGEN STORAGE DISEASE XII 611881
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- HEREDITARY FRUCTOSE INTOLERANCE 229600
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)
|
|
1 review
|
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)
|
|
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)
|
|
1 review
|
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)
|
|
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)
|
|
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)
|
|
1 review
|
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
- Congenital disorder of glycosylation, type Ic 603147
- Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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 Ic, 603147
- ALG6-CDG (CDG-IC)
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)
|
|
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
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)
|
|
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)
|
|
5 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
-
Expert Review
-
Literature
Phenotypes
- Global developmental delay
- Seizures
- Intellectual disability
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
- Alstrom Syndrome
- Bardet-Biedl Syndrome
- 203800
- Alstrom syndrome
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)
|
|
1 review
|
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
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)
|
|
1 review
|
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
-
UKGTN
-
Radboud University Medical Center, Nijmegen
-
Expert list
Phenotypes
- Frontonasal dysplasia type 3 613456
- Frontonasal dysplasia 3 613456
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- FRONTONASAL DYSPLASIA TYPE 3 136760
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
Phenotypes
- Frontonasal dysplasia 1 136760 (frontorhiny)
- Frontonasal dysplasia 1 136760
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
Phenotypes
- Frontonasal dysplasia 2 613451
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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)
|
|
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)
|
|
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
-
Expert list
-
UKGTN
-
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
|
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)
|
|
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)
|
|
1 review
|
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- GLYCINE ENCEPHALOPATHY 605899
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- Rothmund-Thomson Syndrome Type 1
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
3 green
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Craniometaphyseal dysplasia, 123000Chondrocalcinosis 2, 118600
- CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE (CMDJ)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
Expert Review Green
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Chondrocalcinosis 2 118600
- Craniometaphyseal dysplasia 123000
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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)
|
|
1 review
|
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
-
Expert list
-
UKGTN
-
Radboud University Medical Center, Nijmegen
Phenotypes
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)
|
|
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)
|
|
1 review
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, 615382
- Nephronophthisis
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)
|
|
5 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Emory Genetics Laboratory
Phenotypes
- Gnatodiaphyseal dysplasia
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
- skeletal dysplasias
- Disproportionate Short Stature
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- GNATHODIAPHYSEAL DYSPLASIA 166260
- LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L 611307
- MIYOSHI MUSCULAR DYSTROPHY TYPE 3 613319
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
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
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Hyaline fibromatosis syndrome 228600
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)
|
|
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
- Mental retardation, X-linked syndromic, Fried type, 300630
- MENTAL RETARDATION X-LINKED TYPE 59 (MRX59)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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)
|
|
4 reviews
1 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Expert Review Green
-
Expert Review Red
-
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)
|
|
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 613744
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
-
Literature
Phenotypes
- Global developmental delay
- Intellectual disability
- Seizures
- Morphological abnormality of the central nervous system
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
- Corneal clouding, autosomal recessive
- Apolipoprotein A-I deficiency (Disorders of high density lipoprotein metabolism)
- ApoA-I and apoC-III deficiency, combined
- Amyloidosis, 3 or more types 105200
- Hypoalphalipoproteinemia 604091
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
- Hyperchylomicronemia, late-onset 144650
- Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias)
- {Hypertriglyceridemia, susceptibility to} 145750
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
Phenotypes
- Hypercholesterolemia, familial, 2 144010
- Hypobetalipoproteinemia 615558
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, 220110
- Isolated complex IV deficiency
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
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, 220110
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ATAXIA WITH OCULOMOTOR APRAXIA 1 208920
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- ANDROGEN INSENSITIVITY SYNDROME 300068
- SPINAL AND BULBAR MUSCULAR ATROPHY 313200
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
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
- Argininemia, 207800
- ARGININEMIA (ARGIN)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
- Argininaemia (Urea cycle disorders and inherited hyperammonaemias)
- Argininemia 207800
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)
|
|
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
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
-
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)
|
|
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
- Epileptic encephalopathy, early infantile, 8, 300607
- EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8
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)
|
|
1 review
|
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)
|
|
1 review
|
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
-
Expert Review Red
Phenotypes
- Coffin-Siris syndrome 6, 617808
- 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
-
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
-
Expert Review Red
-
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
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
- {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)
|
|
1 review
|
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CILIARY DYSKINESIA, PRIMARY, 23 615451
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
-
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)
|
|
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
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ARYLSULFATASE A DEFICIENCY 250100
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MUCOPOLYSACCHARIDOSIS TYPE 6 253200
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)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
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
-
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)
|
|
2 reviews
|
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
-
UKGTN
-
Radboud University Medical Center, Nijmegen
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
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)
|
|
1 review
|
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)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- FARBER LIPOGRANULOMATOSIS
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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)
|
|
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)
|
|
5 reviews
2 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Expert Review Red
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Argininosuccinic aciduria 207900
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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)
|
|
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)
|
|
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936
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)
|
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CITRULLINEMIA TYPE I 615700
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)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
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
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
Expert list
Phenotypes
- Bohring-Opitz syndrome 605039
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)
|
|
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
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)
|
|
3 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- BAINBRIDGE-ROPERS SYNDROME
- BRPS
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)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
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)
|
|
5 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Expert Review Green
Phenotypes
- Harel-Yoon syndrome 617183
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Intellectual disability
- AICAR transformylase deficiency (Disorders of purine metabolism)
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)
|
|
4 reviews
1 green
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Spastic paraplegia 3A, autosomal dominant, 182600
- Hereditary spastic paraplegia
- Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ATAXIA-TELANGIECTASIA 208900
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
- Generalized hypotonia
- Global developmental delay
- Intellectual disability
- Seizures
- Feeding difficulties
- Abnormality of the cardiovascular system
- Cleft palate
- Abnormality of the kidney
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
-
Literature
-
Expert Review
Phenotypes
- Hypomagnesemia
- Seizures
- Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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)
|
|
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)
|
|
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)
|
|
4 reviews
1 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Expert Review Red
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Cutis laxa, autosomal recessive, type IIA 219200
- Wrinkly skin syndrome 278250
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)
|
|
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)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Expert Review
-
Literature
Phenotypes
- Epileptic encephalopathy, infantile or early childhood, 3 618012
- Cutis laxa, autosomal recessive, type IID 617403
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS 267300
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)
|
|
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
|
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)
|
|
4 reviews
2 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
NHS GMS
-
Expert Review Green
-
UKGTN
-
Emory Genetics Laboratory
-
Expert list
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Spinal muscular atrophy, distal, 300489
- Menkes disease 309400
- Occipital horn syndrome 304150
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 615268
- intellectual disability
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS 211600
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
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)
|
|
1 review
|
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)
|
|
1 review
|
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)
|
|
1 review
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
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)
|
|
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)
|
|
1 review
|
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)
|
|
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)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
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
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Green
-
Expert Review
Phenotypes
- ID
- Spastic paraplegia 26, autosomal recessive
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
- Congenital disorder of glycosylation, type IId 607091
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- EHLERS-DANLOS SYNDROME PROGEROID TYPE 130070
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
-
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BARDET-BIEDL SYNDROME TYPE 1 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 1 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 1 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
- Bardet Biedl syndrome 13
- 268000
- Bardet Biedl syndrome 1
- Bardet Biedl syndrome 11
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, 209900
- BARDET-BIEDL SYNDROME TYPE 1 (BBS1)
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
-
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)
|
|
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
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BARDET-BIEDL SYNDROME TYPE 10 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 10, 615987
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BARDET-BIEDL SYNDROME TYPE 12 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 12, 615989
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)
|
|
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)
|
|
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BARDET-BIEDL SYNDROME TYPE 2 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 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)
|
|
1 review
|
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)
|
|
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
-
Emory Genetics Laboratory
Phenotypes
- Polydactyly
- Bardet Biedl syndrome 5, 615983
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BARDET-BIEDL SYNDROME TYPE 5 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 5, 615983
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)
|
|
1 review
|
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)
|
|
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
-
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 9, 209900
- BARDET-BIEDL SYNDROME TYPE 9 (BBS9)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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)
|
|
1 review
|
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)
|
|
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)
|
|
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)
|
|
1 review
|
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)
|
|
1 review
|
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)
|
|
1 review
|
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)
|
|
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)
|
|
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)
|
|
1 review
|
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)
|
|
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
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)
|
|
1 review
|
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)
|
|
1 review
|
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)
|
|
1 review
|
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)
|
|
1 review
|
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CENTRONUCLEAR MYOPATHY 2 255200
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
- Bloom syndrome, 210900
- BLOOM SYNDROME
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
-
Expert
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Osteogenesis imperfecta, type XIII, 614856
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Emory Genetics Laboratory
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)
|
|
4 reviews
1 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)
|
|
1 review
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
-
Expert Review Amber
-
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)
|
|
1 review
|
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- DIAPHANOSPONDYLODYSOSTOSIS 608022
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)
|
|
4 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
-
UKGTN
-
Expert list
Phenotypes
- Brachydactyly, type A1, D 616849
- Brachydactyly, type A2 112600
- Acromesomelic dysplasia, Demirhan type 609441
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, 609441
- Brachydactyly, type A1, D 616849
- Brachydactyly, type A2, 112600
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BRACHYDACTYLY TYPE A2 112600
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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)
|
|
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
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)
|
|
1 review
|
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)
|
|
5 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- INTELLECTUAL DISABILITY 616579
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Fanconi anemia, complementation group D1, 605724
- Radial Ray abnormality
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)
|
|
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
|
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
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Radial Ray abnormality
- Fanconi anemia, complementation group J, 609054
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
-
Expert Review Amber
-
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
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)
|
|
1 review
|
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)
|
|
5 reviews
2 green
2 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Expert Review Red
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Encephalopathy, progressive, with or without lipodystrophy 615924
- Lipodystrophy, congenital generalized, type 2 269700
- Neuropathy, distal hereditary motor, type VA 600794
- Silver spastic paraplegia syndrome 270685
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BARTTER SYNDROME TYPE 4A 602522
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- BIOTINIDASE DEFICIENCY 253260
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)
|
|
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)
|
|
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 257300
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
-
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)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 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)
- Spastic paraplegia 55, autosomal recessive, 615035
- Combined oxidative phosphorylation deficiency 7, 613559
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 613559
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
1 green
3 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism)
- Neurodegeneration with brain iron accumulation 4, 614298
- Mitochondrial Membrane Protein-Associated Neurodegeneration
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
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
-
Expert list
-
Literature
Phenotypes
- Spondylometaphyseal dysplasia, axial 602271
- Axial Spondylometaphyseal Dysplasia 602271
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- Axial Spondylometaphyseal Dysplasia
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)
|
|
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)
|
|
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
-
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)
|
|
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
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Expert list
-
UKGTN
Phenotypes
- Orofaciodigital syndrome XIV 615948
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- RETINITIS PIGMENTOSA 54 613428
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
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
-
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
-
Expert Review Green
-
Expert list
-
Other
Phenotypes
- Joubert syndrome
- Oral-facial-digital syndrome type VI
- Joubert syndrome 17
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CONE-ROD DYSTROPHY 16 614500
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 259730
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
-
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)
|
|
1 review
|
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)
|
|
5 reviews
2 green
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Expert Review Red
Phenotypes
- Epileptic encephalopathy, early infantile, 42 617106
- Episodic ataxia, type 2 108500
- Migraine, familial hemiplegic, 1 141500
- Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500
- Spinocerebellar ataxia 6 183086
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
- Brugada syndrome 3 611875
- Timothy syndrome 601005
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Expert Review Red
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)
|
|
1 review
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Literature
Phenotypes
- Epileptic encephalopathy, early infantile, 50 - MIM 616457
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- Uridine-responsive epileptic encephalopathy
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Expert Review Green
-
Expert Review Red
Phenotypes
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 617799
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)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Expert list
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
Phenotypes
- Desbuquois dysplasia 1 251450
- multiple epiphyseal dysplasia type 7, 617719.
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review
-
Expert Review Green
-
Expert Review
-
Literature
Phenotypes
- Brittle hair
- Fragile nails
- Microcephaly
- Neurodevelopmental delay
- Microcephaly, developmental delay, and brittle hair syndrome MIM#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)
|
|
1 review
|
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)
|
|
1 review
|
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CYSTATHIONINE BETA-SYNTHASE DEFICIENCY 236200
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
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
-
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)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Expert list
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Emory Genetics Laboratory
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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)
|
|
1 review
|
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- PRIMARY CILIARY DYSKINESIA
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- PRIMARY CILIARY DYSKINESIA
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- Disorder of Golgi homeostasis
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
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CILIARY DYSKINESIA, PRIMARY, 14 613807
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
-
Literature
Phenotypes
- Woolly hair
- Abnormality of the liver
- Global developmental delay
- Intellectual disability
- Trichohepatoneurodevelopmental syndrome, 618268
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- PRIMARY CILIARY DYSKINESIA
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)
|
|
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)
|
|
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)
|
|
1 review
|
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CILIARY DYSKINESIA, PRIMARY, 29 615872
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)
|
|
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- Meier-Gorlin Syndrome and Craniosynostosis
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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)
|
|
1 review
|
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
-
Literature
-
Expert Review Green
-
Expert Review Green
-
Literature
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Mental retardation, autosomal dominant 3, 612580
- MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 3 (MRD3)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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)
|
|
1 review
|
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)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
UKGTN
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
-
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
-
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)
|
|
1 review
|
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)
|
|
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)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- SYNDROMIC INTELLECTUAL DISABILITY
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
1 green
3 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- Generalized hypotonia
- Feeding difficulties
- Global developmental delay
- Intellectual disability
- Behavioral abnormality
- Abnormality of cardiovascular system morphology
- Hearing impairment
- Abnormality of vision
- Anorectal anomaly
- Seizures
- Intellectual developmental disorder with hypotonia and behavioral abnormalities #618748
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)
|
|
1 review
|
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)
|
|
4 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
|
Sources
-
NHS GMS
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Expert list
-
UKGTN
Phenotypes
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)
|
|
1 review
|
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)
|
|
1 review
|
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
-
Radboud University Medical Center, Nijmegen
-
Expert list
-
UKGTN
Phenotypes
- Meier-Gorlin syndrome 4 613804
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
1 green
2 red
|
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
-
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
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)
|
|
1 review
|
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)
|
|
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)
|
|
1 review
|
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)
|
|
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)
|
|
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
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MICROCEPHALY PRIMARY TYPE 4 604321
- SECKEL SYNDROME TYPE 5 613823
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)
|
|
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)
|
|
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
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
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
-
Expert list
-
Radboud University Medical Center, Nijmegen
-
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)
|
|
1 review
|
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)
|
|
1 review
|
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
-
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)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 614114
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
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)
|
|
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)
|
|
3 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
- ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
- Spinal muscular atrophy, Jokela type
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
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
- Epileptic encephalopathy, childhood-onset, 615369
- EPILEPTIC ENCEPHALOPATHY
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
- Macrocephaly
- Snijders Blok-Campeau syndrome, 618205
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Expert Review Green
-
Expert Review Amber
-
BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Sifrim-Hitz-Weiss syndrome 617159
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CHARGE SYNDROME 214800
- IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110
- KALLMANN SYNDROME TYPE 5 612370
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
- CHARGE syndrome, 214800{Scoliosis, idiopathic 3}, 608765Hypogonadotropic hypogonadism 5 with or without anosmia, 612370
- KALLMANN SYNDROME TYPE 5 (KAL5)
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
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
Phenotypes
- Overgrowth with Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
-
Literature
Phenotypes
- Muscular dystrophy, congenital, megaconial type, 602541
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
2 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Choline kinase deficiency (Disorders of complex lipid synthesis)
- Muscular dystrophy, congenital, megaconial type, 602541
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Expert Review Red
Phenotypes
- Pontocerebellar hypoplasia, type 8 614961
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MEGALOCORNEA, X-LINKED 309300
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1 600513
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT 265000
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
-
Radboud University Medical Center, Nijmegen
-
Expert list
Phenotypes
- Escobar syndrome, 265000
- MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE
- Multiple pterygium syndrome, lethal type, 253290
- PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1
- EDSMC1
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
-
Emory Genetics Laboratory
Phenotypes
- Ehlers-Danlos syndrome, musculocontractural type 1 601776
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, musculocontractural type 1 601776
- CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE 601776
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
Phenotypes
- Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS 143095
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Spondyloepiphyseal dysplasia with congenital joint dislocations 143095
- CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- Macular corneal dystrophy 217800
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME 605282
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
UKGTN
-
Emory Genetics Laboratory
-
Expert list
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Temtamy preaxial brachydactyly syndrome 605282
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Temtamy preaxial brachydactyly syndrome 605282
- CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Other
Phenotypes
- Temtamy preaxial brachydactyly syndrome 605282
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- NONSYNDROMIC DEAFNESS DFNB48 609439
- USHER SYNDROME TYPE 1J 614869
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
- Mental retardation, autosomal dominant 45 617600
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- WOLFRAM SYNDROME TYPE 2 604928
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
London North GLH
-
NHS GMS
Phenotypes
- Wolfram syndrome 2 604928
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Microcephaly 17, primary, autosomal recessive, 617090
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Polydactyly
- Filippi syndrome 272440
- FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION 272440
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
2 red
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Expert Review Red
Phenotypes
- Mental retardation, X-linked 49-15 300114
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
-
Emory Genetics Laboratory
Phenotypes
- Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990
- Dent disease 300009
- Nephrolithiasis, type I 310468
- Hypophosphatemic rickets 300554
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
Phenotypes
- Osteopetrosis, autosomal recessive 4 611490
- Osteopetrosis, autosomal dominant 2 166600
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CLCN7-RELATED OSTEOPETROSIS 611490
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
Phenotypes
- Hypomagnesemia 3, renal 248250
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT 248190
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
Phenotypes
- Hypomagnesemia 5, renal, with ocular involvement 248190
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Ceroid lipofuscinosis, neuronal, 3, 204200
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 204200
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
- Ceroid lipofuscinosis, neuronal, 3, 204200
- NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 (CLN3)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Ceroid lipofuscinosis, neuronal, 5, 256731
- NEURONAL CEROID LIPOFUSCINOSIS TYPE 5 (CLN5)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- NEURONAL CEROID LIPOFUSCINOSIS TYPE 5 256731
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Ceroid lipofuscinosis, neuronal, 5, 256731
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET 204300
- CEROID LIPOFUSCINOSIS, NEURONAL, 6 601780
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Ceroid lipofuscinosis, neuronal, 6, 601780
- Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Ceroid lipofuscinosis, neuronal, 6, 601780Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
- CEROID LIPOFUSCINOSIS, NEURONAL, 6
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Ceroid lipofuscinosis, neuronal, 8, 600143Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003
- NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 (CLN8)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Ceroid lipofuscinosis, neuronal, 8
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT 610003
- NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 600143
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- PONTOCEREBELLAR HYPOPLASIA, TYPE 10
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA 616271
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- 3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis
- cataract, neutropenia, epilepsy
- congenital microcephaly and severe encephalopathy
- progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Perrault syndrome 3, 614129
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Other
-
Expert Review Green
-
Expert Review Green
Phenotypes
- Mental retardation, autosomal dominant 56, 617854
- Autosomal dominant non-syndromic intellectual disability, Epilepsy and 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
- INTELLECTUAL DISABILITY WITH EPILEPSY
- X-linked intellectual disability
- XLID
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
-
Expert Review Green
-
Expert Review
-
Literature
Phenotypes
- Hypomagnesemia, seizures, and mental retardation 616418
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
- Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism)
- Hypomagnesemia 6, renal 613882
- Hypomagnesemia, seizures, and mental retardation 616418
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Holoprosencephaly 12, with or without pancreatic agenesis, 618500
- global developmental delay
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Literature
Phenotypes
- Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, 618608
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- CNOT3 syndrome
- intellectual disability, global developmental delay
- Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME 610042
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
-
Emory Genetics Laboratory
Phenotypes
- Cortical dysplasia-focal epilepsy syndrome, 610042{Autism susceptibility 15}, 612100Pitt-Hopkins like syndrome 1, 610042
- CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME (CDFES)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Victorian Clinical Genetics Services
Phenotypes
- ?{Fatal infantile cardiomyopathy, association with}, 604377
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
NHS GMS
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- Neurodegeneration with brain iron accumulation 6, 615643
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Illumina TruGenome Clinical Sequencing Services
-
Expert list
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital disorder of glycosylation, type IIg 611209
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
- Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
- Congenital disorder of glycosylation, type IIg 611209
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 IIg, 611209
- COG1-CDG (CDG-IIG)
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- Congenital disorder of glycosylation, type IIj, 613489
- COG4-CDG (CDG-IIJ)
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- COG4-CDG 319493
- Saul-Wilson syndrome 618150
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
- Congenital disorder of glycosylation, type IIj 613489
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 IIi 613612
- Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Expert Review Green
-
Expert Review Red
Phenotypes
- Congenital disorder of glycosylation, type III, 613612
- COG5-CDG
- CDG-III
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
-
Literature
Phenotypes
- Congenital disorder of glycosylation, type IIl, 614576
- Shaheen syndrome, 615328
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
- Shaheen syndrome 615328
- Congenital disorder of glycosylation, type IIl 614576
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
- Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
- Congenital disorder of glycosylation, type IIe 608779
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 IIe, 608779
- COG7-CDG (CDG-IIE)
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 IIh, 611182
- COG8-CDG (CDG-IIH)
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 IIh 611182
- Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
Expert Review Green
-
Emory Genetics Laboratory
Phenotypes
- Metaphyseal chondrodysplasia, Schmid type 156500
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA 156500
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- STICKLER SYNDROME, TYPE II 604841
- FIBROCHONDROGENESIS 228520
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Emory Genetics Laboratory
-
Eligibility statement prior genetic testing
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Stickler syndrome, type II 604841
- Marshall syndrome 154780
- Fibrochondrogenesis 1 228520
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Eligibility statement prior genetic testing
-
UKGTN
Phenotypes
- Orofacial Clefting with skeletal features
- Stickler Syndrome
- Cleft palate
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Radboud University Medical Center, Nijmegen
-
Expert Review Green
-
Eligibility statement prior genetic testing
-
UKGTN
Phenotypes
- Stickler syndrome, type III
- STICKLER SYNDROME, NONOCULAR TYPE
- OSMED
- STL3
- Non-ocular Stickler syndrome
- Cleft palate
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- WEISSENBACHER-ZWEYMUELLER SYNDROME 184840
- AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA 215150
- DEAFNESS AUTOSOMAL DOMINANT TYPE 13 601868
- STICKLER SYNDROME TYPE 3 184840
- DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 609706
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Stickler syndrome, type III 184840
- Otospondylomegaepiphyseal dysplasia 215150
- Fibrochondrogenesis 2 614524?
- Fibrochondrogenesis 2 614524
- Weissenbacher-Zweymuller syndrome 277610
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- KNOBLOCH SYNDROME TYPE I 267750
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
NHS GMS
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Eligibility statement prior genetic testing
-
UKGTN
-
Emory Genetics Laboratory
-
Expert
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Osteogenesis imperfecta, type I 166200
- Caffey disease 114000
- Osteogenesis imperfecta, type III 259420
- Osteogenesis imperfecta, type II 166210
- Ehlers-Danlos syndrome, type VIIA 130060
- Ehlers-Danlos syndrome, classic 130000
- Osteogenesis imperfecta, type IV 166220
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CAFFEY DISEASE 114000
- OSTEOGENESIS IMPERFECTA TYPE IIA 166210
- OSTEOGENESIS IMPERFECTA TYPE III 259420
- COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA 166210
- EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED 130060
- OSTEOGENESIS IMPERFECTA TYPE I 166200
- EHLERS-DANLOS SYNDROME TYPE VIIA 319158
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Emory Genetics Laboratory
-
Expert
-
UKGTN
-
Eligibility statement prior genetic testing
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Ehlers-Danlos syndrome, cardiac valvular form 225320
- Ehlers-Danlos syndrome, type VIIB 130060
- Osteogenesis imperfecta, type II 166210
- Osteogenesis imperfecta, type III 259420
- Osteogenesis imperfecta, type IV 166220
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Epiphyseal dysplasia, multiple, with myopia and deafness 132450
- Spondyloepiphyseal dysplasia, Stanescu type 616583
- Stickler sydrome, type I, nonsyndromic ocular 609508
- Achondrogenesis, type II or hypochondrogenesis 200610
- Kniest dysplasia 156550
- Legg-Calve-Perthes disease 150600
- Otospondylomegaepiphyseal dysplasia 215150
- Stickler syndrome, type I 108300
- SMED Strudwick type 184250
- Spondyloperipheral dysplasia 271700
- Platyspondylic skeletal dysplasia, Torrance type 151210
- Czech dysplasia 609162
- SED congenita 183900
- Osteoarthritis with mild chondrodysplasia 604864
- Avascular necrosis of the femoral head 608805
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- ACHONDROGENESIS TYPE 2 200610
- PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE 151210
- SPONDYLOPERIPHERAL DYSPLASIA 271700
- PRIMARY AVASCULAR NECROSIS OF FEMORAL HEAD 608805
- SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE 184250
- SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA 183900
- RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT 609508
- KNIEST DYSPLASIA 156550
- STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR 609508
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Other
Phenotypes
- Platyspondylic skeletal dysplasia, Torrance type 151210
- Achondrogenesis, type II or hypochondrogenesis 200610
- Spondyloperipheral dysplasia 271700
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
-
Eligibility statement prior genetic testing
-
UKGTN
Phenotypes
- STICKLER SYNDROME, TYPE I (STL1), 108300
- Orofacial Clefting with skeletal features
- Stickler Syndrome
- Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss)
- Stickler sydrome, type I, non syndromic ocular
- STICKLER SYNDROME, VITREOUS TYPE 1
- STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE
- ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE, AOM
- STICKLER SYNDROME, TYPE I
- STL1
- Cleft palate
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
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
- Porencephaly 1, 175780Brain small vessel disease with hemorrhage, 607595Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773Brain small vessel disease with Axenfeld-Rieger anomaly, 607595{Hemorrhage, intracerebral, susceptibility to}, 614519
- PORENCEPHALY 1
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
- Porencephaly 2, 614483{Hemorrhage, intracerebral, susceptibility to}, 614519
- PORENCEPHALY 2
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780
- ALPORT SYNDROME AUTOSOMAL DOMINANT 104200
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- COL6A1 associated myopathy
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- DYSTONIA 27 616411
- ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 254090
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
Expert Review Green
-
Expert
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Stickler syndrome, type IV 614134
- Epiphyseal dysplasia, multiple, 6 614135
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- STICKLER SYNDROME TYPE 4 614134
- MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6 614135
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Stickler syndrome, type IV (ophthalmological: myopia, retinal detachment and cataracts, orofacial: micrognathia, midface hypoplasia and cleft palate, auditory:sensorineural hearing loss and articular: epiphyseal dysplasia) symptoms
- Autosomal recessive Stickler syndrome
- Orofacial Clefting with skeletal features
- Cleft palate
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Epiphyseal dysplasia, multiple, 2 600204
- Stickler syndrome, type V 614284
- Stickler syndrome, type V, 614284
- {Intervertebral disc disease, susceptibility to}, 603932
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2 600204
- STICKLER SYNDROME, TYPE V 614284
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 600969
- Stickler syndrome
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
Expert Review Green
-
Expert Review
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
-
Expert
Phenotypes
- MED
- multiple epiphyseal dysplasia
- Epiphyseal dysplasia, multiple, with myopathy
- Stickler syndrome type VI
- multiple epiphyseal dysplasia 3, with or without myopathy - 600969
- Multiple Epiphyseal Dysplasia, Dominant
- Mutiple Epiphyseal Dysplasia
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
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
-
Expert list
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
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
- 3MC syndrome 2, 265050
- 3MC SYNDROME 2
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400
- PSEUDOACHONDROPLASIA, 177170
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
Expert Review Green
-
Emory Genetics Laboratory
-
Eligibility statement prior genetic testing
-
Expert
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Epiphyseal dysplasia, multiple, 1 132400
- Pseudoachondroplasia 177170
Tags
- nucleotide-repeat-expansion
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- {Multiple system atrophy, susceptibility to}, 146500
- Coenzyme Q10 deficiency
- Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of ubiquinone metabolism and biosynthesis
- Coenzyme Q10 deficiency, primary, 1, 607426
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- COENZYME Q10 DEFICIENCY 607426
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of ubiquinone metabolism and biosynthesis
- Coenzyme Q10 deficiency, primary, 7
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- COENZYME Q10 DEFICIENCY, PRIMARY, 7
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Coenzyme Q10 deficiency, primary, 6, 614650
- Steroid-resistant nephrotic syndrome
- Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of ubiquinone metabolism and biosynthesis
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
Phenotypes
- ?Coenzyme Q10 deficiency, primary, 8 616733
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Coenzyme Q10 deficiency
- Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of ubiquinone metabolism and biosynthesis
- Coenzyme Q10 deficiency, primary, 4, 612016
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- COENZYME Q10 DEFICIENCY 607426
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Coenzyme Q10 deficiency, primary, 4, 612016
- COENZYME Q10 DEFICIENCY
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Nephrotic syndrome, type 9
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Coenzyme Q10 deficiency, primary, 5, 614654
- Coenzyme Q10 deficiency
- Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of ubiquinone metabolism and biosynthesis
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- COENZYME Q10 DEFICIENCY 607426
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- LEIGH SYNDROME 256000
- MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex IV Deficiency
- Isolated complex IV deficiency
- Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
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
- Mitochondrial complex IV deficiency, 220110
- Isolated complex IV deficiency
- Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- LEIGH SYNDROME 256000
- MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex IV Deficiency
- Isolated complex IV deficiency
- Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Leigh syndrome due to cytochrome c oxidase deficiency, 256000
- Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Leigh syndrome due to cytochrome c oxidase deficiency, 256000Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
- MITOCHONDRIAL COMPLEX IV DEFICIENCY (MT-C4D)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Mitochondrial complex IV deficiency, 220110
- Isolated complex IV deficiency
- Complex IV Mitochondrial respiratory chain disorders caused by nuclear variants only
- OXPHOS assembly factors
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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 WITH LINEAR SKIN LESIONS 300887
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
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Isolated complex IV deficiency
- Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
- Linear skin defects with multiple congenital anomalies
- Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887
- MICROPHTHALMIA WITH LINEAR SKIN LESIONS
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Cerebellar ataxia, 604290
- Hemosiderosis, systemic, due to aceruloplasminemia, 604290
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
- Harderoporphyria 121300
- Coproporphyria 121300
- Hereditary coproporphyria (Acute neuropathic porphyrias)
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Carbamoylphosphate synthetase I deficiency
- Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY 237300
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
- Carbamoylphosphate synthetase I deficiency, 237300{Pulmonary hypertension, neonatal, susceptibility to}, 615371{Venoocclusive disease after bone marrow transplantation}
- CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY (CPS1D)
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
NHS GMS
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Carnitine palmitoyltransferase I (CPTI) deficiency (Disorders of carnitine transport and the carnitine cycle)
- CPT deficiency, hepatic, type IA
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
NHS GMS
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- CPT deficiency, hepatic, type II 600649
- CPT II deficiency, lethal neonatal 608836
- Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle)
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
-
Expert Review Red
Phenotypes
- Mental retardation, autosomal recessive 34, with variant lissencephaly 614499
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE 600105
- LEBER CONGENITAL AMAUROSIS 8 613835
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE 219730
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review
-
Expert Review Green
Phenotypes
- Ventriculomegaly with cystic kidney disease 219730
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Ventriculomegaly with cystic kidney disease 219730
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Literature
-
Expert Review
Phenotypes
- Osteogenesis imperfecta, type XVI 616229
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- RUBINSTEIN-TAYBI SYNDROME TYPE 1 180849
- CREBBP intellectual disability without typical RTS features
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
Expert Review Green
-
Expert list
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Emory Genetics Laboratory
Phenotypes
- Rubinstein-Taybi syndrome 180849
- Rubinstein-Taybi syndrome 180849
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
- Rubinstein-Taybi syndrome, 180849
- RUBINSTEIN-TAYBI SYNDROME TYPE 1 (RSTS1)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
Expert
-
UKGTN
-
Emory Genetics Laboratory
Phenotypes
- Osteogenesis imperfecta, type VII 610682
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7 613829
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CATARACT, NUCLEAR 123580
- CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 604219
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES 600881
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- CATARACT ZONULAR TYPE 2 610425
- MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4 610426
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CATARACT 17, MULTIPLE TYPES, MONOALLELIC
- CATARACT 17, MULTIPLE TYPES
- CATARACT 17, MULTIPLE TYPES, BIALLELIC
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CATARACT, CONGENITAL, CERULEAN TYPE, 2 601547
- CATARACT, COPPOCK-LIKE 604307
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 609741
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- CATARACT AUTOSOMAL DOMINANT 604219
- CATARACT COPPOCK-LIKE 604307
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- CATARACT CONGENITAL CERULEAN TYPE 3 115700
- CATARACT AUTOSOMAL DOMINANT 604219
- CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690
- CATARACT CRYSTALLINE ACULEIFORM 115700
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autism
- Global developmental delay
- Intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
DD-Gene2Phenotype
Phenotypes
- BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 618476
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Other
Phenotypes
- Okur-Chung neurodevelopmental syndrome
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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
-
Victorian Clinical Genetics Services
-
Literature
Phenotypes
- Intellectual disability with or without myoclonic epilepsy
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Orphanet
-
Expert Review Green
-
Expert list
-
Other
Phenotypes
- Joubert syndrome
- Meckel syndrome
- Joubert syndrome 21
- Meckel-Gruber syndrome
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Orphanet
-
Expert Review Green
-
Expert list
-
Other
Phenotypes
- Joubert syndrome
- Meckel syndrome
- Joubert syndrome 21
- Meckel-Gruber syndrome
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Joubert syndrome
- Meckel syndrome
- Joubert syndrome 21
- Meckel-Gruber syndrome
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Other
Phenotypes
- Joubert syndrome 21 615636
- ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- Joubert syndrome 21 615636
- ORPHA:475 Joubert syndrome
- ORPHA:564 Meckel syndrome
- ORPHA:475 Joubert syndrome
- ORPHA:564 Meckel syndrome
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- UNVERRICHT-LUNDBORG DISEASE 254800
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- UNVERRICHT-LUNDBORG DISEASE
Tags
- nucleotide-repeat-expansion
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 612199
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
- MRD21
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
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
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital cataracts, facial dysmorphism, and neuropathy, 604168
- CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME (CCFDN)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME 604168
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Cortical dysplasia, complex, with other brain malformations 9, 618174
- intellectual disability
- global developmental delay
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
- Mental retardation, autosomal dominant 19, 615075Colorectal cancer, somatic, 114500Pilomatricoma, somatic, 132600Ovarian cancer, somatic, 167000Hepatocellular carcinoma, somatic, 114550
- MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 615075
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Phenotypes
- BLEPHAROCHEILODONTIC
- Cleft palate
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
London North GLH
-
NHS GMS
-
Expert Review Green
Phenotypes
- Cystinosis, atypical nephropathic
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
DD-Gene2Phenotype
-
Expert Review Green
Phenotypes
- CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE 219750
- CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE 219900
- CYSTINOSIS NEPHROPATHIC TYPE 219800
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
-
Radboud University Medical Center, Nijmegen
-
Expert list
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Galactosialidosis, 256540
- GALACTOSIALIDOSIS (GSL)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
Phenotypes
- Haim-Munk syndrome 245010
- Papillon-Lefevre syndrome 245000
- Periodontitis 1, juvenile 170650
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
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Expert list
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Radboud University Medical Center, Nijmegen
Phenotypes
- Haim-Munk syndrome 245010,
- Haim-Munk syndrome 245010
Tags
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Green
Green List (high evidence)
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1 review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
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DD-Gene2Phenotype
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Expert Review Green
Ph |