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 1.24
|
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 1.16
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
Phenotypes
- Crouzon syndrome with acanthosis nigricans 612247
|
Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
|
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Achondroplasia, OMIM:100800
- Thanatophoric dysplasia, OMIM:187600
- Crouzon syndrome with acanthosis nigricans, OMIM:612247
- Muenke syndrome, OMIM:602849
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.16
|
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 1.22
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert list
- Expert Review Green
Phenotypes
- Bilateral Microtia
- 149730
- LADD syndrome (lacrimo auriculo dento digital)
- syndromic features
- Achondroplasia 100800
- Crouzon syndrome with acanthosis nigricans
|
Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
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 2.41
Latest signed off version: v2.0
(30 Nov 2022)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Syringocystadenoma papilliferum
- Epidermal naevi
|
Version 2.4
Latest signed off version: v2.0
(30 Nov 2022)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Removed
- London North GLH
- NHS GMS
Phenotypes
- Epidermal naevi
- Syringocystadenoma papilliferum
Tags
|
Version 2.57
Latest signed off version: v2.2
(25 Feb 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Hypochondroplasia, 146000
- Crouzon syndrome with acanthosis nigricans, 612247
Tags
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
|
Version 1.15
Latest signed off version: v1.2
(13 Feb 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert list
- Expert Review Green
Phenotypes
- Muenke syndrome OMIM:602849
- Crouzon syndrome with acanthosis nigricans OMIM:612247
- Thanatophoric dysplasia, type I OMIM:187600
- Thanatophoric dysplasia, type II OMIM:187601
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.54
Latest signed off version: v4.0
(22 Mar 2023)
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
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert list
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 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
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 4.179
Latest signed off version: v4.0
(22 Mar 2023)
|
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 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Removed
- Emory Genetics Laboratory
Phenotypes
- Disproportionate Short Stature
Tags
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
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 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
- Expert
- Emory Genetics Laboratory
Phenotypes
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.108
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- Muenke syndrome, OMIM:602849
- Hypochondroplasia, OMIM:146000
|
Version 3.87
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- Hypochondroplasia, OMIM:146000
- Crouzon syndrome with acanthosis nigricans, OMIM:612247
- Thanatophoric dysplasia, type I, OMIM:187600
- Thanatophoric dysplasia, type II, OMIM:187601
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.183
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- Hypochondroplasia, OMIM:146000
- hypochondroplasia, MONDO:0007793
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
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 1.182
|
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
|
Version 1.1
Latest signed off version: v1.0
(14 Sep 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
|