KRIT1

KRIT1, ankyrin repeat containing
OMIM: 604214, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green KRIT1 in Mendeliome Version 1.3512	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics 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 Tags founder
Green KRIT1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860 Cavernous malformations of CNS and retina MIM#116860 Cerebral cavernous malformations-1 MIM#116860
Green KRIT1 in Vascular Malformations_Germline Level 2: Cardiovascular disorders Version 1.12 Component of the following Super Panels: Vascular Malformations SuperPanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Royal Melbourne Hospital Phenotypes Cerebral cavernous malformations-1 116860 Cavernous malformations of CNS and retina 116860 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860 Tags founder
Green KRIT1 in Stroke Level 2: Neurology and neurodevelopmental disorders Version 1.28	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cavernous malformations of CNS and retina MIM#116860 Cerebral cavernous malformations-1 MIM#116860 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860
Green KRIT1 in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 1.9 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cavernous malformations of CNS and retina, 116860 Cerebral cavernous malformations-1, 116860 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 Tags founder
Amber KRIT1 in Additional findings_Paediatric Level 2: Screening Version 0.278	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Cerebral cavernous malformations-1 MIM# 116860
Amber KRIT1 in Fetal anomalies Version 1.465	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Phenotypes Cavernous malformations of CNS and retina MIM#116860 Cerebral cavernous malformations-1 MIM#116860 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860
Red KRIT1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Cerebral cavernous malformations-1 MIM# 116860