KRIT1

KRIT1, ankyrin repeat containing
OMIM: 604214, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green KRIT1 in Cerebral vascular malformations Level 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	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 2: Respiratory Version 3.7 Latest signed off version: v3.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen 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 Level 2: Dermatology Version 2.5 Latest signed off version: v2.0 (30 Apr 2025)	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 Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	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 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) 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)