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 4.3	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 4.0	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 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cutis laxa, autosomal recessive, type IIB, 612940, ARCL2B, Intellectual disability
Green in Likely inborn error of metabolism 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 5.6	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 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cutis laxa, autosomal recessive, type IIB 612940, Cutis laxa, autosomal recessive, type IIIB 614438