Genomics England

PYCR1

pyrroline-5-carboxylate reductase 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB 612940
Green in Ehlers Danlos syndrome with a likely monogenic cause R-numbers: R101 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cutis laxa, autosomal recessive, type IIIB, OMIM:614438, Cutis laxa, autosomal recessive, type IIB, OMIM:612940
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cutis laxa, autosomal recessive, type IIB, 612940, ARCL2B, Intellectual disability
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cutis laxa, autosomal recessive, type IIB, 612940, Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism), Cutis laxa, autosomal recessive, type IIIB, 614438
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.31	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cutis laxa, autosomal recessive, type IIB 612940, Cutis laxa, autosomal recessive, type IIIB 614438