Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.69
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Literature
|
Version 4.6
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
- Pfeiffer syndrome, OMIM:101600
|
Version 3.4
Latest signed off version: v3.0
(30 Nov 2022)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
- Literature
Phenotypes
- Osteoglophonic dysplasia (166250)
- Hypophosphatemia
|
Version 3.12
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center
- Emory Genetics Laboratory
Phenotypes
- Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950
- Hartsfield syndrome, OMIM:615465
- Pfeiffer syndrome, OMIM:101600
- Jackson-Weiss syndrome, OMIM:123150
|
Version 5.2
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
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
- Encephalocraniocutaneous lipomatosis, somatic mosaism, 613001
- Hartsfield syndrome, 615465
- Hypogonadotropic hypogonadism 2 with or without anosmia, 147950
- Jackson-Weiss syndrome, 123150
- Osteoglophonic dysplasia, 166250
- Pfeiffer syndrome,101600
- Trigonocephaly 1,190440
- Polydactyly
|
Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.41
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- OMIM
Phenotypes
- Hypogonadotropic hypogonadism 2 with or without anosmia, 147950
- Beare-Stevenson Cutis Gyrata Syndrome, 123790
- Crouzon Syndrome, 123500
- Pfeiffer Syndrome, 101600
- Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory)
- Pfeiffer syndrome, 101600
- Jackson-Weiss syndrome, 123150
- Osteoglophonic dysplasia, 166250
- Trigonocephaly 1, 190440
- Hartsfield syndrome, 615465
- Nonsyndromic Trigonocephaly
Tags
|
Version 3.18
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- South West GLH
Phenotypes
- Hypogonadotropic hypogonadism type 2(OMIM 147950)
|
Version 2.47
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
|
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
- Jackson-Weiss syndrome OMIM:123150
- Osteoglophonic dysplasia OMIM:166250
- Pfeiffer syndrome OMIM:101600
- Trigonocephaly 1 OMIM:190440
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.9
Latest signed off version: v4.4
(1 May 2024)
Component of the following Super Panels:
Cerebral malformation
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- Expert Review
Phenotypes
- Hartsfield syndrome, 615465
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
Phenotypes
- Hypogonadotropic hypogonadism 2 with or without anosmia 147950
- Encephalocraniocutaneous lipomatosis, somatic mosaism 613001
- Pfeiffer syndrome 101600
- Trigonocephaly 1 190440
- Hartsfield syndrome 615465
- Jackson-Weiss syndrome 123150
- Osteoglophonic dysplasia 166250
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM
- OSTEOGLOPHONIC DYSPLASIA
- PFEIFFER SYNDROME
- KALLMANN SYNDROME TYPE 2
- Hartsfield syndrome
- Encephalocraniocutaneous lipomatosis
Tags
|
Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert list
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
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 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950
- Encephalocraniocutaneous lipomatosis, OMIM:613001
- PFEIFFER SYNDROME, OMIM:101600
- OSTEOGLOPHONIC DYSPLASIA, OMIM:166250
- Hartsfield syndrome, OMIM:615465
Tags
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.41
Latest signed off version: v4.39
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Hartsfield syndrome, 615465
- Hypogonadotropic hypogonadism 2 with or without anosmia, 147950
- Kallmann syndrome 2
|
Version 3.95
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.9
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Red
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hartsfield syndrome, OMIM:615465
- Pfeiffer syndrome, OMIM:101600
- Encephalocraniocutaneous lipomatosis, somatic mosaic, OMIM:613001
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Pfeiffer syndrome, 101600
- Osteoglophonic dysplasia, 166250
- Hypogonadotropic hypogonadism 2 with or without anosmia, 147950
- Hartsfield syndrome, 615465
- Jackson-Weiss syndrome, 123150
- Trigonocephaly 1, 190440
|