PNPLA6

patatin like domain 6, lysophospholipase
OMIM: 603197, ClinGen, DECIPHER

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Amber PNPLA6 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes PNPLA6-related spastic paraplegia with or without ataxia MONDO:0100149
Amber PNPLA6 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic paraplegia 39 MIM#612020
Green PNPLA6 in Mendeliome Version 2.0	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155 Spastic paraplegia 39, autosomal recessive MIM#612020
Red PNPLA6 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Laurence-Moon syndrome - MIM#245800 Boucher-Neuhauser syndrome - MIM#215470 Oliver-McFarlane syndrome - #275400 Spastic paraplegia 39, autosomal recessive - #612020
Green PNPLA6 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PNPLA6 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155
Green PNPLA6 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Boucher-Neuhauser syndrome MIM#215470 Laurence-Moon syndrome MIM#245800 Oliver-McFarlane syndrome MIM#275400 Spastic paraplegia 39, autosomal recessive MIM#612020
Amber PNPLA6 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spastic paraplegia 39, autosomal recessive, MIM# 612020
Green PNPLA6 in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Laurence-Moon Syndrome (LMS) MIM#245800 Spastic Paraplegia Type 39 MIM#612020
Green PNPLA6 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list RetNet Expert list Phenotypes Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155
Green PNPLA6 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Boucher-Neuhauser syndrome, 215470 (3)
Green PNPLA6 in Pituitary hormone deficiency Level 3: Pituitary disorders Level 2: Endocrine disorders Version 1.0	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Expert list Victorian Clinical Genetics Services Phenotypes Oliver-McFarlane syndrome (275400) Spastic paraplegia 39, autosomal recessive (612020) Boucher-Neuhauser syndrome (215470)
Green PNPLA6 in Growth failure Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Oliver-McFarlane syndrome, MIM# 275400 Laurence-Moon syndrome, MIM# 245800
Amber PNPLA6 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Oliver-McFarlane syndrome - MIM#275400
Green PNPLA6 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Boucher-Neuhauser syndrome MIM#215470 Oliver-McFarlane syndrome MIM#275400 Spastic paraplegia 39, autosomal recessive MIM#612020
Green PNPLA6 in Infertility and Recurrent Pregnancy Loss Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Boucher-Neuhauser syndrome, MIM# 215470
Green PNPLA6 in Hypogonadotropic hypogonadism Level 3: Pituitary disorders Level 2: Endocrine disorders Version 1.0	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert list Expert Review Green Expert Review Green Expert list Expert Review Green Genomics England PanelApp Expert Review Green Expert Review Green Expert list Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Oliver-McFarlane syndrome (275400) Spastic paraplegia 39, autosomal recessive (612020) Boucher-Neuhauser syndrome (215470)