Genomics England

GNAS

GNAS complex locus

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis R-numbers: R293 Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes
Green in Congenital hypothyroidism R-numbers: R145 Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Phenotypes Pseudohypoparathyroidism Ia, 103580 (Hypothyroidism)
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes GNAS HYPERFUNCTION 139320, PSEUDOHYPOPARATHYROIDISM TYPE 1B 603233, ALBRIGHT HEREDITARY OSTEODYSTROPHY 103580, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Pseudohypoparathyroidism Ia, OMIM:103580, pseudohypoparathyroidism type 1A, MONDO:0007078, Pseudohypoparathyroidism Ib, OMIM:603233, pseudohypoparathyroidism type 1B, MONDO:0011301, Pseudohypoparathyroidism Ic, OMIM:612462, pseudohypoparathyroidism type 1C, MONDO:0012911, McCune-Albright syndrome, somatic, mosaic, OMIM:174800, panostotic fibrous dysplasia, MONDO:0043168, Osseous heteroplasia, progressive, OMIM:166350, progressive osseous heteroplasia, MONDO:0008153, ACTH-independent macronodular adrenal hyperplasia. OMIM:219080, ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735, Pseudopseudohypoparathyroidism, OMIM:612463, pseudopseudohypoparathyroidism, MONDO:0012912
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Pseudohypoparathyroidism Ia, OMIM:103580, pseudohypoparathyroidism type 1A, MONDO:0007078, Pseudohypoparathyroidism Ic, OMIM:612462, pseudohypoparathyroidism type 1C, MONDO:0012911, Pseudopseudohypoparathyroidism, OMIM:612463, pseudopseudohypoparathyroidism, MONDO:0012912
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Phenotypes Pseudohypoparathyroidism Ia, OMIM:103580, pseudohypoparathyroidism type 1A, MONDO:0007078, Pseudohypoparathyroidism Ib, OMIM:603233, pseudohypoparathyroidism type 1B, MONDO:0011301, Pseudohypoparathyroidism Ic, OMIM:612462, pseudohypoparathyroidism type 1C, MONDO:0012911, McCune-Albright syndrome, somatic, mosaic, OMIM:174800, panostotic fibrous dysplasia, MONDO:0043168, Osseous heteroplasia, progressive, OMIM:166350, ACTH-independent macronodular adrenal hyperplasia. OMIM:219080, ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735, Pseudopseudohypoparathyroidism, OMIM:612463, pseudopseudohypoparathyroidism, MONDO:0012912
Green in Mosaic skin disorders - deep sequencing R-numbers: R327 Signed-off version 2.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes McCune-Albright syndrome, somatic, mosaic, OMIM:174800, panostotic fibrous dysplasia, MONDO:0043168
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Phenotypes 103580, pseudohypoparathyroidism type 1a 103580, pseudohypoparathyroidism type 1a
Green in Severe early-onset obesity R-numbers: R149 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Phenotypes Pseudohypoparathyroidism Ia, OMIM:103580, pseudohypoparathyroidism type 1A, MONDO:0007078, Pseudohypoparathyroidism Ic, OMIM:612462, pseudohypoparathyroidism type 1C, MONDO:0012911, Pseudopseudohypoparathyroidism, OMIM:612463, pseudopseudohypoparathyroidism, MONDO:0012912
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Phenotypes Pseudohypoparathyroidism Ia, OMIM:103580, pseudohypoparathyroidism type 1A, MONDO:0007078, Pseudohypoparathyroidism Ib, OMIM:603233, pseudohypoparathyroidism type 1B, MONDO:0011301, Pseudohypoparathyroidism Ic, OMIM:612462, pseudohypoparathyroidism type 1C, MONDO:0012911, McCune-Albright syndrome, somatic, mosaic, OMIM:174800, panostotic fibrous dysplasia, MONDO:0043168, Osseous heteroplasia, progressive, OMIM:166350, ACTH-independent macronodular adrenal hyperplasia. OMIM:219080, ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735, Pseudopseudohypoparathyroidism, OMIM:612463, pseudopseudohypoparathyroidism, MONDO:0012912