Version 0.64
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- ClinGen
- Expert Review Green
- Other
Phenotypes
- Achondroplasia
- ORPHA15
- OMIM 100800
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.13
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
- Other
Phenotypes
- LADD syndrome, 149730
- Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs
- short radius
|
Level 3: Choanal anomalies
Level 2: Skeletal disorders
Version 1.15
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Eligibility statement prior genetic testing
Phenotypes
- Crouzon syndrome with acanthosis nigricans 612247
|
Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.27
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
|
Version 2.5
Signed off v.2.3
on 2 Mar 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Achondroplasia 100800
- Thanatophoric dysplasia 187600
- Crouzon syndrome with acanthosis nigricans 612247
- Muenke syndrome 602849
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.11
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hypochondroplasia, 146000
- Crouzon syndrome with acanthosis nigricans, 612247
|
Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.17
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- Expert list
Phenotypes
- Bilateral Microtia
- 149730
- LADD syndrome (lacrimo auriculo dento digital)
- syndromic features
- Achondroplasia 100800
- Crouzon syndrome with acanthosis nigricans
|
Version 2.33
Signed off v.2.2
on 13 Feb 2020
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Victorian Clinical Genetics Services
- 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
- Thanatophoric dysplasia, type II 187601
- Polydactyly
- LADD syndrome 149730
- LADD syndrome, 149730
- short radius
- Achondroplasia 100800
- SADDAN 616482
- Thanatophoric dysplasia, type I 187600
- Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs
- Hypochondroplasia 146000
- CATSHL syndrome 610474
- Crouzon syndrome with acanthosis nigricans 612247
- Muenke syndrome 602849
|
Version 1.5
Signed off v.1.3
on 15 Oct 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Syringocystadenoma papilliferum
- Epidermal naevi
|
Version 1.5
Signed off v.1.3
on 15 Oct 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Removed
- London North GLH
- NHS GMS
Phenotypes
- Epidermal naevi
- Syringocystadenoma papilliferum
|
Version 2.3
Signed off v.2.2
on 25 Feb 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Hypochondroplasia, 146000
- Crouzon syndrome with acanthosis nigricans, 612247
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.55
Signed off v.3.2
on 13 Feb 2020
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
|
Version 1.3
Signed off v.1.2
on 13 Feb 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert list
- Expert Review Green
Phenotypes
- Muenke syndrome 602849
- Crouzon syndrome with acanthosis nigricans 612247
- Thanatophoric dysplasia, type I 187600
- Thanatophoric dysplasia, type II 187601
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.78
Signed off v.2.2
on 13 Feb 2020
Component of the following Super Panels:
Paediatric disorders
|
review
|
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
- Expert list
- UKGTN
Phenotypes
- Thanatophoric dysplasia, type I 187600
- Muenke syndrome 602849
- CATSHL syndrome 610474
- SADDAN 616482
- Thanatophoric dysplasia, type II 187601
- Achondroplasia 100800
- LADD syndrome 149730
- Hypochondroplasia 146000
- Crouzon syndrome with acanthosis nigricans 612247
|
Version 1.202
Signed off v.1.92
on 21 Aug 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME
- MUENKE SYNDROME
- ACHONDROPLASIA
- CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS
- CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME
- HYPOCHONDROPLASIA
- THANATOPHORIC DYSPLASIA TYPE 2
- THANATOPHORIC DYSPLASIA TYPE 1
|
Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 2.23
Signed off v.2.2
on 13 Feb 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert list
Phenotypes
- Muenke syndrome
- Crouzon syndrome with acanthosis nigricans
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.11
Signed off v.2.2
on 13 Feb 2020
|
review
|
Not set
|
Sources
- Expert Review Removed
- Emory Genetics Laboratory
Phenotypes
- Disproportionate Short Stature
|
Version 2.18
Signed off v.2.2
on 13 Feb 2020
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- THANATOPHORIC DYSPLASIA TYPE 2 187601
- THANATOPHORIC DYSPLASIA TYPE 1 187600
- MUENKE SYNDROME 602849
- ACHONDROPLASIA 100800
- CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS 612247
- CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME 610474
- LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730
- HYPOCHONDROPLASIA 146000
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.146
Signed off v.2.5
on 13 Feb 2020
|
review
|
Not set
|
Sources
- Expert
- Emory Genetics Laboratory
Phenotypes
|
Version 1.33
Signed off v.1.4
on 3 Mar 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- Hypochondroplasia, 146000
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.278
Signed off v.2.2
on 13 Feb 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- Hypochondroplasia, 146000
- Focal Epilepsy
- Muenke syndrome, 602849
- Epilepsy
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.741
Signed off v.3.2
on 13 Feb 2020
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Red
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- CATSHL syndrome 610474
- Hypochondroplasia 146000
- SADDAN 616482
- Muenke syndrome 602849
- Thanatophoric dysplasia, type I 187600
Tags
|
Version 1.46
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Thanatophoric dysplasia, type II, 187601
- Muenke syndrome, 602849
- SADDAN, 616482
- Crouzon syndrome with acanthosis nigricans, 612247
- CATSHL syndrome, 610474
- Achondroplasia, 100800
- LADD syndrome, 149730
- Thanatophoric dysplasia, type I, 187600
- Hypochondroplasia, 146000
|