Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.69
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review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Pituitary hormone deficiency, combined
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Version 3.12
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Pituitary hormone deficiency, combined, 2 (262600)
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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
- Emory Genetics Laboratory
- UKGTN
Phenotypes
- Pituitary hormone deficiency, combined, 2, 262600
- Proportionate Short Stature/Small for Gestational Age
- Combined Pituitary Hormone Deficiency, Recessive
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Version 3.18
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Wessex and West Midlands GLH
- NHS GMS
- South West GLH
Phenotypes
- Pituitary hormone deficiency, combined, 2, OMIM:262600
Tags
|
Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY
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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
- Proportionate Short Stature/Small for Gestational Age
Tags
|
Version 3.90
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 262600
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.39
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
|
Version 3.95
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Pituitary hormone deficiency, combined
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Pituitary hormone deficiency, combined, 2, 262600
|
Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 2.18
Latest signed off version: v2.2
(25 Feb 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- GH, TSH, LH, FSH, PRL deficiency with variable age of onset, evolving ACTH deficiency
- Commonest cause of combined pituitary hormone deficit without extra pituitary manifestations
- Hypoplastic or normal anterior pituitary although there have been reports of an enlarged anterior pituitary at initial scanning in childhood with spontaneous involution over time
- Pituitary hormone deficiency, combined, 2, 262600
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Pituitary hormone deficiency, combined, 2, 262600
|