PAM16

presequence translocase associated motor 16
OMIM: 614336, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green PAM16 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.239	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature Phenotypes Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320
Green PAM16 in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320
Green PAM16 in Mitochondrial disease Level 2: Metabolic disorders Version 0.1085 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0013223 Disorders of mitochondrial protein import
Green PAM16 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, MIM#613320
Green PAM16 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list NHS GMS Phenotypes Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320
Green PAM16 in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320