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NM_177939.3(P4HTM):c.1411C>T (p.Gln471Ter) AND Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 12, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000787325.1

Allele description [Variation Report for NM_177939.3(P4HTM):c.1411C>T (p.Gln471Ter)]

NM_177939.3(P4HTM):c.1411C>T (p.Gln471Ter)

Gene:
P4HTM:prolyl 4-hydroxylase, transmembrane [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_177939.3(P4HTM):c.1411C>T (p.Gln471Ter)
Other names:
P4HTM, GLN532TER
HGVS:
  • NC_000003.12:g.49006809C>T
  • NG_029915.1:g.4606C>T
  • NM_177938.2:c.1594C>T
  • NM_177939.3:c.1411C>TMANE SELECT
  • NP_808807.2:p.Gln532Ter
  • NP_808808.1:p.Gln471Ter
  • NC_000003.11:g.49044242C>T
Protein change:
Q471*; GLN532TER
Links:
OMIM: 614584.0004; dbSNP: rs1576610000
NCBI 1000 Genomes Browser:
rs1576610000
Molecular consequence:
  • NM_177938.2:c.1594C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_177939.3:c.1411C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
Synonyms:
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
Identifiers:
MONDO: MONDO:0032780; MedGen: C5193124; OMIM: 618493

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000926255OMIM
no assertion criteria provided
Pathogenic
(Jul 12, 2019) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).

Rahikkala E, Myllykoski M, Hinttala R, Vieira P, Nayebzadeh N, Weiss S, Plomp AS, Bittner RE, Kurki MI, Kuismin O, Lewis AM, Väisänen ML, Kokkonen H, Westermann J, Bernert G, Tuominen H, Palotie A, Aaltonen L, Yang Y, Potocki L, Moilanen J, van Koningsbruggen S, et al.

Genet Med. 2019 Oct;21(10):2355-2363. doi: 10.1038/s41436-019-0503-4. Epub 2019 Apr 3.

PubMed [citation]
PMID:
30940925
PMCID:
PMC6774999

Details of each submission

From OMIM, SCV000926255.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 brothers, born of consanguineous Turkish parents (family 3), with hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities (HIDEA; 618493), Rahikkala et al. (2019) identified a homozygous c.1594C-T transition (c.1594C-T, NM_177938.2) in exon 9 of the P4HTM gene, resulting in a gln532-to-ter (Q532X) substitution. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the gnomAD database. A third deceased brother had a similar phenotype, but DNA was not available.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022