Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Congenital disorder of glycosylation, type Ik 608540
- Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Congenital disorder of glycosylation, type Ip 613661
- ALG11-CDG (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital disorder of glycosylation, type Ig 607143
- Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
- Congenital myasthenic sydrome (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Congenital disorder of glycosylation, type Id 601110
- Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Congenital disorder of glycosylation, type Ic 603147
- Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital disorder of glycosylation, type Ih 608104
- Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- ALG9-CDG (Disorders of protein N-glycosylation)
- Congenital disorder of glycosylation, type Il 608776
- Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Immunodeficiency 47 300972
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Cutis laxa, autosomal recessive, type IIA 21920
- Wrinkly skin syndrome 278250
- V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
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)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
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
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
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)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Green
-
NHS GMS
Phenotypes
- Spastic paraplegia 26, autosomal recessive, OMIM:609195
- Hereditary spastic paraplegia 26, MONDO:0012213
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital disorder of glycosylation, type IId, OMIM:607091
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
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)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Other
Phenotypes
- Congenital disorder of glycosylation, type IIo 616828
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
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)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
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)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Macular corneal dystrophy 217800
- CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Temtamy preaxial brachydactyly syndrome 605282
- CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Congenital disorder of glycosylation, type IIg 611209
- Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital disorder of glycosylation, type IIj 613489
- Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
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
- non-coding-known-pathogenic
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital disorder of glycosylation, type IIl 614576
- Shaheen syndrome 615328
- Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital disorder of glycosylation, type IIe 608779
- Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
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)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Green
Phenotypes
- Congenital disorder of glycosylation
- Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870
- skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Congenital disorder of glycosylation, type Im 610768
- Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Congenital disorder of glycosylation, type Ij 608093
- Myasthenic syndrome, congenital, 13, with tubular aggregates 614750
- UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Congenital disorder of glycosylation, type Ie, OMIM:608799
- GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
NHS GMS
-
Other
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital disorder of glycosylation, type Iu, OMIM:615042
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
NHS GMS
Phenotypes
- Congenital disorder of glycosylation, type 2V, OMIM:619493
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Green
-
NHS GMS
Phenotypes
- Adams-Oliver syndrome 4 OMIM:615297
- Adams-Oliver syndrome 4 MONDO:0014124
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Exostoses, multiple, type 1 133700
- Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- ?Seizures, scoliosis, and macrocephaly syndrome 616682
- Exostoses, multiple, type 2 133701
- Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153
- Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
- Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588
- Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Congenital disorder of glycosylation with defective fucosylation, 618005
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Green
-
NHS GMS
Phenotypes
- Dursun syndrome OMIM:612541
- Neutropenia, severe congenital 4, autosomal recessive OMIM:612541
- autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0012930
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Congenital disorder of glycosylation, type IIt 618885
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Tumoral calcinosis, hyperphosphatemic, familial 211900
- Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Green
Phenotypes
- Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351
- muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352
- autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Nonaka myopathy 605820
- ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
NHS GMS
-
Radboud University Medical Center, Nijmegen
-
Research
-
UKGTN
Phenotypes
- Geroderma osteodysplasticum OMIM:231070
- geroderma osteodysplastica MONDO:0009271
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840
- N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
1 red
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
-
NHS GMS
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853
- IAP-CDG (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Mental retardation, autosomal recessive 15 614202
- MAN1B1-CDG (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital disorder of glycosylation, type IIa 212066
- N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Congenital disorder of glycosylation, type IIb 606056
- MOGS-CDG (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Congenital disorder of glycosylation, type If 609180
- Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital disorder of glycosylation, type Ib, OMIM:602579
- MPI-CDG, MONDO:0011257
- Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
Phenotypes
- Congenital disorder of deglycosylation 615273
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Hyperphosphatasia with mental retardation syndrome 3 614207
- PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Hyperphosphatasia with mental retardation syndrome 4 615716
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Congenital disorder of deglycosylation 615273
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
UKGTN
Phenotypes
- Immunodeficiency 23 615816
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868
- PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- CHIME syndrome 280000
- PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Hyperphosphatasia with mental retardation syndrome 2 614749
- (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Green
Phenotypes
- Glycosylphosphatidylinositol biosynthesis defect 18 618143
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Hyperphosphatasia with mental retardation syndrome 1 239300
- (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
NHS GMS
Phenotypes
- Glycosylphosphatidylinositol biosynthesis defect 11 OMIM:616025
- hyperphosphatasia with intellectual disability syndrome 5 MONDO:0014457
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Eligibility statement prior genetic testing
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Congenital disorder of glycosylation, type Ia 212065
- Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157
- Retinitis pigmentosa 76 617123
- Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase 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
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Green
-
NHS GMS
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308
- Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158
- Protein-O-mannosyltransferase 2 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
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Congenital disorder of glycosylation, type In 612015
- Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Dyserythropoietic anemia, congenital, type II, OMIM:224100
- COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital disorder of glycosylation, type IIf, 603585
- CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
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
-
Expert Review Green
-
NHS GMS
-
Other
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Congenital disorder of glycosylation, type IIm OMIM:300896
- Developmental and epileptic encephalopathy-22 OMIM:300896
- SLC35A2-CDG MONDO:0010478
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Congenital disorder of glycosylation, type IIc 266265
- GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Schneckenbecken dysplasia OMIM:269250
- schneckenbecken dysplasia MONDO:0010013
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
-
NHS GMS
Phenotypes
- Congenital disorder of glycosylation, type IIw, OMIM:619525
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Other
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital disorder of glycosylation, type IIn 616721
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Congenital Disorder of Glycosylation, Type Iq OMIM:612379
- Kahrizi Syndrome OMIM:612713
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Other
Phenotypes
- Congenital disorder of glycosylation, type Iy 300934
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
NHS GMS
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Developmental and epileptic encephalopathy 15, OMIM:615006
- developmental and epileptic encephalopathy, 15, MONDO:0014003
- Intellectual developmental disorder, autosomal recessive 12, OMIM:611090
- intellectual disability, autosomal recessive 12, MONDO:0012612
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Salt and pepper developmental regression syndrome 609056
- Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Other
-
UKGTN
Phenotypes
- Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714
- Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Congenital disorder of glycosylation, type IIk 614727
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Other
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital disorder of glycosylation, type IIp OMIM:616829
- TMEM199-CDG MONDO:0014790
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 615041
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Intellectual developmental disorder, autosomal recessive 7, OMIM:611093
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Desbuquois dysplasia 2 615777
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Spondyloocular syndrome 605822
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Congenital disorder of glycosylation, type IIbb, OMIM:620546
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Amber
Phenotypes
- Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324
- congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- congenital disorder of glycosylation, MONDO:0015286
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Glycosylphosphatidylinositol deficiency, OMIM:610293
Tags
- non-coding-known-pathogenic
- promoter
- Q4_23_promote_green
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Congenital disorder of glycosylation
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356
- autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Progressive myoclonus epilepsy
- CDG
Tags
|
Red
Red List (low 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
-
Emory Genetics Laboratory
-
Expert Review Red
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Epileptic encephalopathy, early infantile, 36 300884
- ALG13-CDG (Disorders of protein N-glycosylation)
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Red
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- ?Congenital disorder of glycosylation, type Ii 607906
- Myasthenic syndrome, congenital, 14, with tubular aggregates 616228
- Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation)
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Other - please specify in evaluation comments
|
Sources
-
Expert Review Red
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Tn polyagglutination syndrome, somatic 300622
- COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- ?Congenital disorder of glycosylation, type Iz 616457
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Congenital disorder of glycosylation, type IIz, OMIM:620201
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- ?Congenital disorder of glycosylation, type IIq, 617395
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Red
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- ?Congenital disorder of glycosylation, type Ir 614507
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Red
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Retinitis pigmentosa 59, OMIM:613861
- ?Congenital disorder of glycosylation, type 1bb, OMIM:613861
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- {Colorectal cancer, susceptibility to, 1} 608812
- GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Phenotypes
- Glucosidase 1 deficiency (Disorders of protein N-glycosylation)
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review Red
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- ?Spondylocostal dysostosis 3, autosomal recessive 609813
- O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- ?Congenital disorder of glycosylation, type 1aa 617082
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Oligosaccharyltransferase complex-congenital disorders of glycosylation
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Arthrogryposis, mental retardation, and seizures 615553
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- ?Congenital disorder of glycosylation, type Ix 615597
Tags
|