KRIT1

KRIT1, ankyrin repeat containing
OMIM: 604214, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green KRIT1 in Cerebral vascular malformations Level 3: Cerebrovascular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.16 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Cerebral cavernous malformations-1, OMIM:116860 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, OMIM:116860 Cavernous malformations of CNS and retina, OMIM:116860
Red KRIT1 in Hereditary haemorrhagic telangiectasia Level 3: Vascular lung disorders Level 2: Respiratory disorders Version 3.6 Latest signed off version: v3.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Cavernous malformations of CNS and retina 116860 Cerebral cavernous malformations-1 116860 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860
Green KRIT1 in Vascular skin disorders Version 1.63 Latest signed off version: v1.3 (15 Oct 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes CEREBRAL CAVERNOUS MALFORMATIONS 1, OMIM:116860
Green KRIT1 in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1
Green KRIT1 in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860
Red KRIT1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.550 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Red Phenotypes CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 (CCM1)
Green KRIT1 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 Cerebral cavernous malformations-1, 116860 Cavernous malformations of CNS and retina, 116860