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Fetal anomalies

Gene: MTPAP

Amber List (moderate evidence)
MTPAP (mitochondrial poly(A) polymerase)
EnsemblGeneIds (GRCh38): ENSG00000107951
EnsemblGeneIds (GRCh37): ENSG00000107951
OMIM: 613669, Gene2Phenotype
MTPAP is in 17 panels

1 review

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

I don't know

This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8
On 17 panels, inc. severe paediatric disorders and IEM. Associated with ?Spastic ataxia 4 (AR). Onset can be as late as 27 on OMIM. Late polyhydramnios and mild ventriculomegaly. Amber for now as late onset and potentially restricted to Amish population. Van Eyck et al., 2020 PMID 31779033: Px 1: pregnancy: polyhydramnios, mild bilateral ventriculomegaly. Head circumference at birth in 9th centile. Brain anomalies seen from birth. Deterioration until death at 3.5mo. Px 2: pregnancy: mild ventriculomegaly and polyhydramnios. Normal birth weight and head circumference; no white matter anomalies seen on prenatal ultrasound and MRI but brain MRI on 3do showed similar appearance to px 1 (sister). Died 6wo. Both siblings had c.1283T>C p.(Ile428Thr) and c.1567C>T p.(Arg523Trp) comp hets. Px 3: normal pregnancy but onset of symptoms in immediate postnatal period. c.1153A>T p.(ile385Phe). Conclusion: link to prenatal phenotypes (ventriculomegaly, polyhydramnios). Relevant.
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Spastic ataxia 4, autosomal recessive, OMIM:613672

Publications

Created: 5 May 2023, 3 p.m.
Last Modified: 5 May 2023, 3 p.m.
Panel version: 3.8

History Filter Activity

5 May 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MTPAP were set to

5 May 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: MTPAP was added gene: MTPAP was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTPAP were set to ?Spastic ataxia 4, autosomal recessive, OMIM:613672