GNAS

GNAS complex locus
OMIM: 139320, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green GNAS in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 1.96 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Expert list Phenotypes Pseudohypoparathyroidism Ib, MIM# 603233
Amber GNAS in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Pseudohypoparathyroidism type 1a, MIM# 103580 Craniosynostosis
Green GNAS in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osseous heteroplasia, progressive (166350) AD Pituitary adenoma 3, multiple types, somatic (617686) Pseudohypoparathyroidism Ia (103580) AD Pseudohypoparathyroidism Ib (603233) AD Pseudohypoparathyroidism Ic (612462) AD Pseudopseudohypoparathyroidism (612463)
Green GNAS in Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy Level 2: Endocrine disorders Version 0.13	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green GNAS in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.24	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Pseudohypoparathyroidism Ia, MIM# 103580
Green GNAS in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genetic Health Queensland Phenotypes Pseudohypoparathyroidism Ia (103580) Pseudohypoparathyroidism Ib (603233) Pseudohypoparathyroidism Ic (612462) Pseudopseudohypoparathyroidism (612463)
Green GNAS in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Expert Review Green NHS GMS Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Pseudohypoparathyroidism Ia 103580 ACTH-independent macronodular adrenal hyperplasia 219080 IC Pseudohypoparathyroidism Ib 603233 Pseudopseudohypoparathyroidism 612463 McCune-Albright syndrome, somatic, mosaic 174800 Pseudohypoparathyroidism Ic 612462 Osseous heteroplasia, progressive 166350
Green GNAS in Primary Ovarian Insufficiency_Premature Ovarian Failure Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 0.328	review	Not set	Sources Expert Review Green Royal Melbourne Hospital
Green GNAS in Additional findings_Paediatric Level 2: Screening Version 0.278	review	Unknown	Sources BabySeq Category A gene Expert Review Green Phenotypes Pseudopseudohypoparathyroidism Pseudohypoparathyroidism
Green GNAS in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 0.43	review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Genomics England PanelApp Phenotypes Pseudohypoparathyroidism Ia, MIM#103580 (Hypothyroidism)
Green GNAS in Mosaic skin disorders Level 2: Dermatological disorders Version 1.12 Component of the following Super Panels: Vascular Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes McCune-Albright syndrome Tags somatic
Green GNAS in Imprinting disorders Version 1.3	review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Genomics England PanelApp Phenotypes Affected tissue: kidney, bone, brain pseudopseudohypoparathyroidism Phenotype resulting from under expression: Pseudohypoparathyroidism Type 1a, MIM# 103580 Albright hereditary osteodystrophy
Green GNAS in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.74 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list Expert Review Green Phenotypes McCune-Albright syndrome, somatic, mosaic 174800 ACTH-independent macronodular adrenal hyperplasia 219080 IC Osseous heteroplasia, progressive 166350 Pseudohypoparathyroidism Ic 612462 Pseudopseudohypoparathyroidism 612463 Pseudohypoparathyroidism Ia 103580 Pseudohypoparathyroidism Ib 603233
Green GNAS in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Genomics England PanelApp Phenotypes Pseudohypoparathyroidism Ia, MIM# 103580
Green GNAS in Severe early-onset obesity Level 2: Endocrine disorders Version 1.10	review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Genomics England PanelApp Phenotypes Pseudohypoparathyroidism Ia, MIM# 103580 Pseudohypoparathyroidism Ic, MIM# 612462 Pseudopseudohypoparathyroidism, MIM# 612463
Green GNAS in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green BabySeq Category A gene Phenotypes Pseudopseudohypoparathyroidism Pseudohypoparathyroidism Tags treatable endocrine
Green GNAS in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.14 Component of the following Super Panels: Kidneyome_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Pseudohypoparathyroidism Ic (612462) AD Pituitary adenoma 3, multiple types, somatic (617686) Pseudohypoparathyroidism Ia (103580) AD Pseudohypoparathyroidism Ib (603233) AD Osseous heteroplasia, progressive (166350) AD Pseudopseudohypoparathyroidism (612463)