KAT5

lysine acetyltransferase 5
OMIM: 601409, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber KAT5 in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.78	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103 Severe global developmental delay Intellectual disability Seizures Microcephaly Behavioral abnormality Sleep disturbance Morphological abnormality of the central nervous system Short stature Oral cleft Abnormality of the face
Green KAT5 in Mendeliome Version 1.2302	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103 Severe global developmental delay Intellectual disability Seizures Microcephaly Behavioral abnormality Sleep disturbance Morphological abnormality of the central nervous system Short stature Oral cleft Abnormality of the face
Green KAT5 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103 Severe global developmental delay Intellectual disability Seizures Microcephaly Behavioral abnormality Sleep disturbance Morphological abnormality of the central nervous system Short stature Oral cleft Abnormality of the face
Green KAT5 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103 Severe global developmental delay Intellectual disability Seizures Microcephaly Behavioral abnormality Sleep disturbance Morphological abnormality of the central nervous system Short stature Oral cleft Abnormality of the face
Amber KAT5 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM #619103
Green KAT5 in Fetal anomalies Version 1.313	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities- MIM#619103