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White matter disorders and cerebral calcification - childhood onset v8.13 CNP Achchuthan Shanmugasundram Classified gene: CNP as Amber List (moderate evidence)
White matter disorders and cerebral calcification - childhood onset v8.13 CNP Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated families and functional evidence including mouse model in support of the association of CNP with leukodystrophy. Hence, this gene can be promoted to green rating in the next GMS update.
White matter disorders and cerebral calcification - childhood onset v8.13 CNP Achchuthan Shanmugasundram Gene: cnp has been classified as Amber List (Moderate Evidence).
White matter disorders and cerebral calcification - childhood onset v8.12 CNP Achchuthan Shanmugasundram Tag watchlist was removed from gene: CNP.
Tag Q3_26_promote_green tag was added to gene: CNP.
White matter disorders and cerebral calcification - childhood onset v8.12 CNP Achchuthan Shanmugasundram Phenotypes for gene: CNP were changed from ?Leukodystrophy, hypomyelinating, 20, OMIM:619071 to ?Leukodystrophy, hypomyelinating, 20, OMIM:619071; leukodystrophy, hypomyelinating, 20, MONDO:0033657
White matter disorders and cerebral calcification - childhood onset v8.11 CNP Achchuthan Shanmugasundram Publications for gene: CNP were set to 32128616; 12590258
White matter disorders and cerebral calcification - childhood onset v8.10 CNP Achchuthan Shanmugasundram changed review comment from: PMID:32128616 (2020) reported a consanguineous Omani family with three affected siblings displaying a remarkably consistent phenotype of neuroregression with profound brain white matter loss. They were identified with a homozygous missense variant c.245C>T (p.Ser82Leu) in CNP gene, suggested to function as a null allele (immunoblot + F-actin defects in fibroblasts).

PMID:40396300 (2025) reported a novel case of a child presenting with hypomyelinating leukodystrophy type 20, and identified with homozygous nonsense variant c.295G>T (p.Glu99Ter), supported by RT-qPCR showing reduced CNP mRNA.

PMID:12590258 (2003) reported that deficiency of CNP in mice led to axonal swellings and neurodegeneration throughout the brain, leading to hydrocephalus and premature death.

This gene has been tentatively associated with hypomyelinating leukodystrophy in OMIM (MIM #619071), but not in Gene2Phenotype or ClinGen.; to: PMID:32128616 (2020) reported a consanguineous Omani family with three affected siblings displaying a remarkably consistent phenotype of neuroregression with profound brain white matter loss. They were identified with a homozygous missense variant c.245C>T (p.Ser82Leu) in CNP gene, suggested to function as a null allele (immunoblot + F-actin defects in fibroblasts).

PMID:40396300 (2025) reported a novel case of a child presenting with hypomyelinating leukodystrophy type 20, and identified with homozygous nonsense variant c.295G>T (p.Glu99Ter), supported by RT-qPCR showing reduced CNP mRNA.

PMID:12590258 (2003) reported that deficiency of CNP in mice led to axonal swellings and neurodegeneration throughout the brain, leading to hydrocephalus and premature death.

This gene has been tentatively associated with hypomyelinating leukodystrophy in OMIM (MIM #619071 - last accessed 03 September 2026), but not in Gene2Phenotype or ClinGen.
White matter disorders and cerebral calcification - childhood onset v8.10 CNP Achchuthan Shanmugasundram reviewed gene: CNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 12590258, 32128616, 40396300; Phenotypes: ?Leukodystrophy, hypomyelinating, 20, OMIM:619071, leukodystrophy, hypomyelinating, 20, MONDO:0033657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - childhood onset v1.134 CNP Ivone Leong Tag watchlist tag was added to gene: CNP.
White matter disorders and cerebral calcification - childhood onset v1.134 CNP Ivone Leong Classified gene: CNP as Amber List (moderate evidence)
White matter disorders and cerebral calcification - childhood onset v1.134 CNP Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
White matter disorders and cerebral calcification - childhood onset v1.134 CNP Ivone Leong Gene: cnp has been classified as Amber List (Moderate Evidence).
White matter disorders and cerebral calcification - childhood onset v1.133 CNP Ivone Leong Phenotypes for gene: CNP were changed from Hypomyelinating leukodystrophy to ?Leukodystrophy, hypomyelinating, 20, OMIM:619071
White matter disorders and cerebral calcification - childhood onset v1.14 CNP Zornitza Stark gene: CNP was added
gene: CNP was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature
Mode of inheritance for gene: CNP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNP were set to 32128616; 12590258
Phenotypes for gene: CNP were set to Hypomyelinating leukodystrophy
Review for gene: CNP was set to AMBER
Added comment: Single consanguineous family described with homozygous missense in affected child (additional two affected deceased offspring unavailable for testing; healthy carrier parents and sibling).
Loss of protein by Western blot and defect in F-actin structure and organization observed in patient fibroblasts.
Deficiency of CNP in mouse has previously been shown to cause a lethal white matter neurodegenerative phenotype (PMID: 12590258), similar to the phenotype observed in this family.
Sources: Literature