Level 3: Adrenal disorders
Level 2: Endocrine disorders
Version 3.11
Latest signed off version: v3.0
(30 Nov 2022)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Ideopathic Primary Adrenal Failure
- Congenital Adrenal Hypoplasia
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Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.67
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Other
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- premature ovarian failure, spermatogenic failure, adenocotical insufficiecny, 46 XY sex reversal
- 46XY sex reversal 3,612965
- Premature ovarian failure 7,612964
- Spermatogenic failure 8,613957
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Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
Phenotypes
- Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN)
- Endocrine disorders including disorders of sexual development (Emory)
- 46XY sex reversal 3, 612965
- Premature ovarian failure 7, 612964
- Spermatogenic failure 8, 613957
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Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- 46XY SEX REVERSAL 3
- SPERMATOGENIC FAILURE 8
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Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Removed
- DD-Gene2Phenotype
Phenotypes
- SPERMATOGENIC FAILURE 8 613957
- 46XY SEX REVERSAL 3 612965
Tags
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- 46XY sex reversal 3, 612965
- Premature ovarian failure 7, 612964
- Adrenocortical insufficiency
- Spermatogenic failure 8, 613957
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Version 1.184
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Premature ovarian failure 7, 612964
- 46, XX sex reversal 4, 617480
- Spermatogenic failure 8, 613957
- Adrenocortical insufficiency, 612964
- 46XY sex reversal 3, 612965
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